LPL ELISA Kit for Human(Homo sapiens) | EIAab.comLPL ELISA Kit for Human(Homo sapiens)

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LPL (Gene name),

Lipoprotein lipase (Protein name ), LIPL_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

LPL(LIPD);

Protein name:

Lipoprotein lipase(LPL);

Alternative:

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Homodimer (By similarity). Interacts with APOC2; the interaction activates LPL activity in the presence of lipids. Interacts with GPIHBP1.

Function:

The primary function of this lipase is the hydrolysis of triglycerides of circulating chylomicrons and very low density lipoproteins (VLDL). Binding to heparin sulfate proteogylcans at the cell surface is vital to the function. The apolipoprotein, APOC2, acts as a coactivator of LPL activity in the presence of lipids on the luminal surface of vascular endothelium.

Subcellular Location:

Cell membrane Lipid-anchor GPI-anchor Secreted Locates to the plasma membrane of microvilli of hepatocytes with triacyl-glycerol-rich lipoproteins (TRL). Some of the bound LPL is then internalized and located inside non-coated endocytic vesicles.

Protein Attributes:

Sequence length:

475

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

475:

SHLQKGKAPA | VFVKCHDKSL | NKKSG

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

MIM:

238600

KEGG:

hsa:4023

String:

P06858

STRING:

9606.ENSP00000309757

SMR:

P06858

UniGene:

Hs.180878

Pfam:

PF00151

Uniprot:

P06858

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ELISA Kit for Human LPL

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E0386h

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ELISA Kit for Human LPL

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E0386r

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96T

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ELISA Kit for Human LPL

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E0386p

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ELISA Kit for Human LPL

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E0386m

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ELISA Kit for Human LPL

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E0386b

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96T

ELISA Kit for Human LPL

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E0386c

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96T

CLIA Kit for Human LPL

Cat.:

U0386m

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96T

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CLIA Kit for Human LPL

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U0386p

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96T

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CLIA Kit for Human LPL

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U0386r

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96T

CLIA Kit for Human LPL

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U0386b

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96T

CLIA Kit for Human LPL

Cat.:

U0386h

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96T

CLIA Kit for Human LPL

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U0386c

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Polyclonal Antibody for Human LPL

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P0386Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human LPL

Cat.:

P0386Rb-r

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40ug/0.2ml

Polyclonal Antibody for Human LPL

Cat.:

P0386Rb-m

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Monoclonal Antibody for Human LPL

Protein for Human LPL

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

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Recovery

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Linearity

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References

1.

"Human lipoprotein lipase complementary DNA sequence."
Wion K.L. , Kirchgessner T.G. , Lusis A.J. , Schotz M.C. , Lawn R.M.
Science235:1638-1641(1987) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
2.

"Nucleotide sequence of human cDNA coding for a lipoprotein lipase (LPL) cloned from placental cDNA library."
Gotoda T. , Senda M. , Gamou T. , Furuichi Y. , Oka K.
Nucleic Acids Res.17:2351-2352(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
tissue: Placenta.
3.

"DNA sequence of lipoprotein lipase cDNA cloned from human monocytic leukemia THP-1 cells."
Takagi A. , Ikeda Y. , Yamamoto A.
Nucleic Acids Res.18:6436-6436(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
4.

"The lipoprotein lipase-encoding human gene: sequence from intron-6 to intron-9 and presence in intron-7 of a 40-million-year-old Alu sequence."
Chuat J.-C. , Raisonnier A. , Etienne J. , Galibert F.
Gene110:257-261(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
5.

"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N. , Chen X. , Rolfs A. , Halleck A. , Hines L. , Eisenstein S. , Koundinya M. , Raphael J. , Moreira D. , Kelley T. , LaBaer J. , Lin Y. , Phelan M. , Farmer A.
Submitted (2003-05) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA];VARIANT SER-318
6.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
tissue: Cerebellum.
7.

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
8.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA];VARIANT SER-318
tissue: Brain.
9.

"Characterization of the human lipoprotein lipase (LPL) promoter: evidence of two cis-regulatory regions, LP-alpha and LP-beta, of importance for the differentiation-linked induction of the LPL gene during adipogenesis."
Enerbaeck S. , Ohlsson B.G. , Samuelsson L. , Bjursell G.
Mol. Cell. Biol.12:4622-4633(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-5
10.

"Rapid and simple isolation procedure for lipoprotein lipase from human milk."
Zechner R.
Biochim. Biophys. Acta1044:20-25(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 28-44
tissue: Milk.
11.

"Heparin-binding defective lipoprotein lipase is unstable and causes abnormalities in lipid delivery to tissues."
Lutz E.P. , Merkel M. , Kako Y. , Melford K. , Radner H. , Breslow J.L. , Bensadoun A. , Goldberg I.J.
J. Clin. Invest.107:1183-1192(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: HEPARIN-BINDING;CATALYTIC ACTIVITY
12.

"Normal binding of lipoprotein lipase, chylomicrons, and apo-AV to GPIHBP1 containing a G56R amino acid substitution."
Gin P. , Beigneux A.P. , Davies B. , Young M.F. , Ryan R.O. , Bensadoun A. , Fong L.G. , Young S.G.
Biochim. Biophys. Acta1771:1464-1468(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH GPIHBP1
13.

"Identification of N-linked glycoproteins in human milk by hydrophilic interaction liquid chromatography and mass spectrometry."
Picariello G. , Ferranti P. , Mamone G. , Roepstorff P. , Addeo F.
Proteomics8:3833-3847(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-70
tissue: Milk.
14.

"Lipoprotein lipase. Molecular model based on the pancreatic lipase X-ray structure: consequences for heparin binding and catalysis."
van Tilbeurgh H. , Roussel A. , Lalouel J.-M. , Cambillau C.
J. Biol. Chem.269:4626-4633(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: 3D-STRUCTURE MODELING
15.

"Genetic variants affecting human lipoprotein and hepatic lipases."
Hayden M.R. , Ma Y. , Brunzell J. , Henderson H.E.
Curr. Opin. Lipidol.2:104-109(1991)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
16.

"Compound heterozygote for lipoprotein lipase deficiency: Ser-->Thr244 and transition in 3' splice site of intron 2 (AG-->AA) in the lipoprotein lipase gene."
Hata A. , Emi M. , Luc G. , Basdevant A. , Gambert P. , Iverius P.-H. , Lalouel J.-M.
Am. J. Hum. Genet.47:721-726(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY THR-271
17.

"Missense mutation (Gly-->Glu188) of human lipoprotein lipase imparting functional deficiency."
Emi M. , Wilson D.E. , Iverius P.H. , Wiu L. , Hata A. , Hegele R. , Williams R.R. , Lalouel J.-M.
J. Biol. Chem.265:5910-5916(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY GLU-215
18.

"A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries."
Monsalve M.V. , Henderson H. , Roederer G. , Julien P. , Deeb S. , Kastelein J.J.P. , Peritz L. , Devlin R. , Bruin T. , Murthy M.R.V. , Gagne C. , Davignon J. , Lupien P.J. , Brunzell J.D. , Hayden M.R.
J. Clin. Invest.86:728-734(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY GLU-215
19.

"Lipoprotein lipase Bethesda: a single amino acid substitution (Ala-176-->Thr) leads to abnormal heparin binding and loss of enzymic activity."
Beg O.U. , Meng M.S. , Skarlatos S.I. , Previato L. , Brunzell J.D. , Brewer H.B. Jr. , Fojo S.S.
Proc. Natl. Acad. Sci. U.S.A.87:3474-3478(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY THR-203
20.

"Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome."
Dichek H.L. , Fojo S.S. , Beg O.U. , Skarlatos S.I. , Brunzell J.D. , Cutler G.B. Jr. , Brewer H.B. Jr.
J. Biol. Chem.266:473-477(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY THR-221 AND HIS-270
21.

"Catalytic triad residue mutation (Asp156-->Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447-->Ter) in a Turkish family."
Faustinella F. , Chang A. , van Biervliet J.P. , Rosseneu M. , Vinaimont N. , Smith L.C. , Chen S.-H. , Chan L.
J. Biol. Chem.266:14418-14424(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY GLY-183
22.

"Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene."
Ameis D. , Kobayashi J. , Davis R.C. , Ben-Zeev O. , Malloy M.J. , Kane J.P. , Lee G. , Wong H. , Havel R.J. , Schotz M.C.
J. Clin. Invest.87:1165-1170(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY GLU-169
23.

"Amino acid substitution (Ile194-->Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin."
Henderson H.E. , Ma Y. , Hassan F. , Monsalve M.V. , Marais A.D. , Winkler F. , Gubernator K. , Peterson J. , Brunzell J.D. , Hayden M.R.
J. Clin. Invest.87:2005-2011(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY THR-221
24.

"Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency."
Gotoda T. , Yamada N. , Kawamura M. , Kozaki K. , Mori N. , Ishibashi S. , Shimano H. , Takaku F. , Yazaki Y. , Furuichi Y. , Murase T.
J. Clin. Invest.88:1856-1864(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY GLU-231 AND HIS-270;CHARACTERIZATION OF VARIANTS LPL DEFICIENCY GLU-231 AND HIS-270
25.

"A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians."
Ma Y. , Henderson H.E. , Ven Murthy M.R. , Roederer G. , Monsalve M.V. , Clarke L.A. , Normand T. , Julien P. , Gagne C. , Lambert M. , Davignon J. , Lupien P.J. , Brunzell J. , Hayden M.R.
N. Engl. J. Med.324:1761-1766(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY LEU-234
26.

"A missense mutation (Trp86-->Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia."
Ishimura-Oka K. , Faustinella F. , Kihara S. , Smith L.C. , Oka K. , Chan L.
Am. J. Hum. Genet.50:1275-1280(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY ARG-113
27.

"A missense mutation Pro157Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity."
Bruin T. , Kastelein J.J. , van Diermen D.E. , Ma Y. , Henderson H.E. , Stuyt P.M. , Stalenhoef A.F.H. , Sturk A. , Brunzell J.D. , Hayden M.R.
Eur. J. Biochem.208:267-272(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY ARG-184
28.

"A missense mutation (Asp250-->Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries."
Ma Y. , Wilson B.I. , Bijvoet S. , Henderson H.E. , Cramb E. , Roederer G. , Ven Murthy M.R. , Julien P. , Bakker H.D. , Kastelein J.J. , Brunzell J.D. , Hayden M.R.
Genomics13:649-653(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY ASN-277
29.

"Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis."
Ma Y.H. , Bruin T. , Tuzgol S. , Wilson B.I. , Roederer G. , Liu M.S. , Davignon J. , Kastelein J.J. , Brunzell J.D. , Hayden M.R.
J. Biol. Chem.267:1918-1923(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY ASN-183; GLY-183 AND SER-243
30.

"Human lipoprotein lipase. Analysis of the catalytic triad by site-directed mutagenesis of Ser-132, Asp-156, and His-241."
Emmerich J. , Beg O.U. , Peterson J. , Previato L. , Brunzell J.D. , Brewer H.B. Jr. , Santamarina-Fojo S.
J. Biol. Chem.267:4161-4165(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CHARACTERIZATION OF VARIANTS LPL DEFICIENCY ASN-183 AND GLY-183;MUTAGENESIS OF SER-159 AND HIS-268
31.

"Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization."
Hata A. , Ridinger D.N. , Sutherland S.D. , Emi M. , Kwong L.K. , Shuhua J. , Lubbers A. , Guy-Grand B. , Basdevant A. , Iverius P.H. , Wilson D.E. , Lalouel J.-M.
J. Biol. Chem.267:20132-20139(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY GLU-222
32.

"A missense (Asp250-->Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency."
Ishimura-Oka K. , Semenkovich C.F. , Faustinella F. , Goldberg I.J. , Shachter N. , Smith L.C. , Coleman T. , Hide W.A. , Brown W.V. , Oka K.
J. Lipid Res.33:745-754(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY GLU-215; HIS-270 AND ASN-277
33.

"Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes."
Reina M. , Brunzell J.D. , Deeb S.S.
J. Lipid Res.33:1823-1832(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY ARG-113; ARG-163; GLU-215; THR-221 AND SER-232
34.

"A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia."
Kobayashi J. , Sasaki N. , Tashiro J. , Inadera H. , Saito Y. , Yoshida S.
Biochem. Biophys. Res. Commun.191:1046-1054(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY THR-361
35.

"A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia)."
Haubenwallner S. , Horl G. , Shachter N.S. , Presta E. , Fried S.K. , Hofler G. , Kostner G.M. , Breslow J.L. , Zechner R.
Genomics18:392-396(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY GLU-207
36.

"Gene-environment interaction in the conversion of a mild-to-severe phenotype in a patient homozygous for a Ser172-->Cys mutation in the lipoprotein lipase gene."
Ma Y. , Liu M.-S. , Ginzinger D. , Frohlich J. , Brunzell J.D. , Hayden M.R.
J. Clin. Invest.91:1953-1958(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY CYS-199
37.

"Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes."
Wilson D.E. , Hata A. , Kwong L.K. , Lingam A. , Shuhua J. , Ridinger D.N. , Yeager C. , Kaltenborn K.C. , Iverius P.-H. , Lalouel J.-M.
J. Clin. Invest.92:203-211(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY SER-102
38.

"Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in lipoprotein lipase."
Bruin T. , Tuzgol S. , van Diermen D.E. , Hoogerbrugge-Van der Linden N. , Brunzell J.D. , Hayden M.R. , Kastelein J.J.
J. Lipid Res.34:2109-2119(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY SER-181
39.

"A new Italian case of lipoprotein lipase deficiency: a Leu365-> Val change resulting in loss of enzyme activity."
Chimienti G.P.G. , Resta F. , di Perma V. , Tarricone C. , Lovecchio M. , Collacicco A.M. , Capurso A.
Biochem. Biophys. Res. Commun.199:570-576(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY VAL-392
40.

"A naturally occurring mutation at the second base of codon asparagine 43 in the proposed N-linked glycosylation site of human lipoprotein lipase: in vivo evidence that asparagine 43 is essential for catalysis and secretion."
Kobayashi J. , Inadera H. , Fujita Y. , Talley G. , Morisaki N. , Yoshida S. , Saito Y. , Fojo S.S. , Brewer H.B. Jr.
Biochem. Biophys. Res. Commun.205:506-515(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY SER-70;CHARACTERIZATION OF VARIANT LPL DEFICIENCY SER-70
41.

"Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries."
Ma Y. , Liu M.-S. , Chitayat D. , Bruin T. , Beisiegel U. , Benlian P. , Foubert L. , De Gennes J.L. , Funke H. , Forsythe I. , Blaichman S. , Papanikolaou M. , Erkelens D.W. , Kastelein J. , Brunzell J.D. , Hayden M.R.
Hum. Mutat.3:52-58(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY HIS-270 AND CYS-270
42.

"A compound heterozygote for lipoprotein lipase deficiency, Val69-->Leu and Gly188-->Glu: correlation between in vitro LPL activity and clinical expression."
Bruin T. , Tuzgoel S. , Mulder W.J. , van den Ende A.E. , Jansen H. , Hayden M.R. , Kastelein J.J.P.
J. Lipid Res.35:438-445(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY LEU-96 AND GLU-215;CHARACTERIZATION OF VARIANT LPL DEFICIENCY LEU-96
43.

"High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform."
Ma Y. , Ooi T.C. , Liu M.-S. , Zhang H. , McPherson R. , Edwards A.L. , Forsythe I.J. , Frohlich J. , Brunzell J.D. , Hayden M.R.
J. Lipid Res.35:1066-1075(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY CYS-199; ARG-279; THR-288 AND SER-318;CHARACTERIZATION OF VARIANTS LPL DEFICIENCY ARG-279 AND THR-288
44.

"A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia."
Previato L. , Guardamagna O. , Dugi K.A. , Ronan R. , Talley G.D. , Santamarina-Fojo S. , Brewer H.B. Jr.
J. Lipid Res.35:1552-1560(1994) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY VAL-437
45.

"A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis."
Reymer P.W.A. , Gagne E. , Groenemeyer B.E. , Zhang H. , Forsyth I. , Jansen H. , Seidell J.C. , Kromhout D. , Lie K.E. , Kastelein J.J. , Hayden M.R.
Nat. Genet.10:28-34(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY SER-318
46.

"A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase."
Henderson H.E. , Hassan F. , Marais D. , Hayden M.R.
Biochem. Biophys. Res. Commun.227:189-194(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY TYR-445;CHARACTERIZATION OF VARIANT LPL DEFICIENCY TYR-445
47.

"Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia."
de Bruin T.W.A. , Mailly F. , van Barlingen H.H.J.J. , Fisher R. , Castro Cabezas M. , Talmud P. , Dallinga-Thie G.M. , Humphries S.E.
Eur. J. Clin. Invest.26:631-639(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY SER-318;VARIANT ASN-36
48.

"Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia."
Wiebusch H. , Funke H. , Bruin T. , Bucher H. , von Eckardstein A. , Kastelein J.J.P. , Assmann G.
Hum. Mutat.8:381-383(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY ASN-277 AND LYS-437
49.

"A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia."
Wiebusch H. , Funke H. , Santer R. , Richter W. , Assmann G.
Hum. Mutat.8:392-392(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY GLY-190 AND GLU-215
50.

"Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His)."
Rouis M. , Lohse P. , Dugi K.A. , Lohse P. , Beg O.U. , Ronan R. , Talley G.D. , Brunzell J.D. , Santamarina-Fojo S.
J. Lipid Res.37:651-661(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY HIS-289;VARIANT ASN-36;CHARACTERIZATION OF VARIANT LPL DEFICIENCY HIS-289;CHARACTERIZATION OF VARIANT ASN-36
51.

"Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene."
Benlian P. , De Gennes J.L. , Foubert L. , Zhang H. , Gagne S.E. , Hayden M.
N. Engl. J. Med.335:848-854(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY ALA-128; GLU-215; ARG-215; CYS-270; ASN-277 AND PRO-313
52.

"A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry."
Foubert L. , Bruin T. , de Gennes J.-L. , Ehrenborg E. , Furioli J. , Kastelein J.J. , Benlian P. , Hayden M.R.
Hum. Mutat.10:179-185(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY ARG-286
53.

"Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy."
Mailly F. , Palmen J. , Muller D.P.R. , Gibbs T. , Lloyd J. , Brunzell J. , Durrington P. , Mitropoulos K. , Betteridge J. , Watts G. , Lithell H. , Angelico F. , Humphries S.E. , Talmud P.J.
Hum. Mutat.10:465-473(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS
54.

"Assessment of French patients with LPL deficiency for French Canadian mutations."
Foubert L. , De Gennes J.L. , Lagarde J.P. , Ehrenborg E. , Raisonnier A. , Girardet J.P. , Hayden M.R. , Benlian P.
J. Med. Genet.34:672-675(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY ALA-128; HIS-183; GLU-215; ARG-215; LEU-234; CYS-270 AND ASN-277
55.

"Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event."
Henderson H.E. , Bijvoet S.M. , Mannens M.A.M.M. , Bruin T. , Erkelens D.W. , Hayden M.R. , Kastelein J.J.P.
Am. J. Med. Genet.78:313-316(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY THR-252 AND HIS-270
56.

"A novel Glu421Lys substitution in the lipoprotein lipase gene in pregnancy-induced hypertriglyceridemic pancreatitis."
Henderson H. , Leisegang F. , Hassan F. , Hayden M. , Marais D.
Clin. Chim. Acta269:1-12(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY LYS-448;CHARACTERIZATION OF VARIANT LPL DEFICIENCY LYS-448
57.

"Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LPL) as a cause of chylomicronemia."
Evans D. , Wendt D. , Ahle S. , Guerra A. , Beisiegel U.
Hum. Mutat.12:217-217(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY GLU-215 AND GLY-286
58.

"Common genetic variants of lipoprotein lipase and apolipoproteins AI-CIII that relate to coronary artery disease: a study in Chinese and European subjects."
Zhang Q. , Liu Y. , Liu B.W. , Fan P. , Cavanna J. , Galton D.J.
Mol. Genet. Metab.64:177-183(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY SER-318;VARIANTS ASN-36 AND THR-288
59.

"DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene."
Nickerson D.A. , Taylor S.L. , Weiss K.M. , Clark A.G. , Hutchinson R.G. , Stengaerd J. , Salomaa V. , Vartiainen E. , Boerwinkle E. , Sing C.F.
Nat. Genet.19:233-240(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY SER-318;VARIANTS MET-370 AND ALA-379
60.

"Characterization of single-nucleotide polymorphisms in coding regions of human genes."
Cargill M. , Altshuler D. , Ireland J. , Sklar P. , Ardlie K. , Patil N. , Shaw N. , Lane C.R. , Lim E.P. , Kalyanaraman N. , Nemesh J. , Ziaugra L. , Friedland L. , Rolfe A. , Warrington J. , Lipshutz R. , Daley G.Q. , Lander E.S.
Nat. Genet.22:231-238(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT THR-427
61.

Cargill M. , Altshuler D. , Ireland J. , Sklar P. , Ardlie K. , Patil N. , Shaw N. , Lane C.R. , Lim E.P. , Kalyanaraman N. , Nemesh J. , Ziaugra L. , Friedland L. , Rolfe A. , Warrington J. , Lipshutz R. , Daley G.Q. , Lander E.S.
Nat. Genet.23:373-373(1999)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
62.

"A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency."
Takagi A. , Ikeda Y. , Takeda E. , Yamamoto A.
Biochim. Biophys. Acta1502:433-446(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY LEU-297;CHARACTERIZATION OF VARIANT LPL DEFICIENCY LEU-297
63.

"A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia."
Ikeda Y. , Goji K. , Takagi A.
Clin. Sci.99:569-578(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY ARG-132 AND GLU-231;CHARACTERIZATION OF VARIANTS LPL DEFICIENCY ARG-132 AND GLU-231
64.

"Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->Trp, associated with recurrent severe pancreatitis."
Hoffmann M.M. , Jacob S. , Luft D. , Schmuelling R.-M. , Rett K. , Maerz W. , Haering H.-U. , Matthaei S.
J. Clin. Endocrinol. Metab.85:4795-4798(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY TRP-266
65.

"Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23."
Hoelzl B. , Kraft H.G. , Wiebusch H. , Sandhofer A. , Patsch J. , Sandhofer F. , Paulweber B.
J. Lipid Res.41:734-741(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY ASP-210;CHARACTERIZATION OF VARIANT LPL DEFICIENCY ASP-210
66.

"Novel compound heterozygous mutations for lipoprotein lipase deficiency. A G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5' splice site mutation of intron 8."
Ikeda Y. , Takagi A. , Nakata Y. , Sera Y. , Hyoudou S. , Hamamoto K. , Nishi Y. , Yamamoto A.
J. Lipid Res.42:1072-1081(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY VAL-181;CHARACTERIZATION OF VARIANT LPL DEFICIENCY VAL-181
67.

"Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia."
Chan L.Y.S. , Lam C.-W. , Mak Y.-T. , Tomlinson B. , Tsang M.-W. , Baum L. , Masarei J.R.L. , Pang C.-P.
Hum. Mutat.20:232-233(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY THR-98; ILE-208; VAL-279; ARG-279; TYR-310; ARG-325 AND PHE-365;CHARACTERIZATION OF VARIANTS LPL DEFICIENCY THR-98; ILE-208; VAL-279; ARG-279; TYR-310; ARG-325 AND PHE-365
68.

"Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis."
Saika Y. , Sakai N. , Takahashi M. , Maruyama T. , Kihara S. , Ouchi N. , Ishigami M. , Hiraoka H. , Nakamura T. , Yamashita S. , Matsuzawa Y.
Eur. J. Clin. Invest.33:216-222(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY PHE-303;CHARACTERIZATION OF VARIANT LPL DEFICIENCY PHE-303
69.

"Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors."
Morabia A. , Cayanis E. , Costanza M.C. , Ross B.M. , Flaherty M.S. , Alvin G.B. , Das K. , Gilliam T.C.
Hum. Mol. Genet.12:2733-2743(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY SER-318;VARIANT ASN-36
70.

"Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method."
Abifadel M. , Jambart S. , Allard D. , Rabes J.-P. , Varret M. , Derre A. , Chouery E. , Salem N. , Junien C. , Aydenian H. , Boileau C.
Clin. Genet.65:158-161(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LPL DEFICIENCY VAL-201
71.

"Severe hypertriglyceridaemia in a Greek infant: a clinical, biochemical and genetic study."
Kavazarakis E. , Stabouli S. , Gourgiotis D. , Roumeliotou K. , Traeger-Synodinos J. , Bossios A. , Fretzayas A. , Kanavakis E.
Eur. J. Pediatr.163:462-466(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY GLU-215 AND ARG-328
72.

"Mutations in Japanese subjects with primary hyperlipidemia -- results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996."
The research committee on primary hyperlipidemia of the ministry of health and welfare of Japan , Maruyama T. , Yamashita S. , Matsuzawa Y. , Bujo H. , Takahashi K. , Saito Y. , Ishibashi S. , Ohashi K. , Shionoiri F. , Gotoda T. , Yamada N. , Kita T.
J. Atheroscler. Thromb.11:131-145(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY SER-70; ARG-132; VAL-181; GLU-215; THR-221; ARG-225; ALA-227; GLU-231; CYS-270; HIS-270; THR-288; LEU-297; ARG-305; PHE-330 AND THR-361
73.

"Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency."
Santer R. , Gokcay G. , Demirkol M. , Gal A. , Lukacs Z.
J. Inherit. Metab. Dis.28:137-140(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LPL DEFICIENCY GLU-186; GLU-215 AND THR-221

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