ALPL ELISA Kit for Human(Homo sapiens) | EIAab.comALPL ELISA Kit for Human(Homo sapiens)

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ALPL (Gene name),

Alkaline phosphatase, tissue-nonspecific isozyme (Protein name ), PPBT_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

ALPL;

Protein name:

Alkaline phosphatase, tissue-nonspecific isozyme(AP-TNAP;TNSALP);

Alternative:

Alkaline phosphatase liver/bone/kidney isozyme;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Homodimer.

Function:

This isozyme may play a role in skeletal mineralization.

Subcellular Location:

Cell membrane Lipid-anchor GPI-anchor

Protein Attributes:

Sequence length:

524

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

524:

SSAGSLAAGP | LLLALALYPL | SVLF

3D Structure:

N/A

Predicted Eptitope:

Please Sign in.

Vaild Sequence:

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Related Databases

KEGG:

hsa:249

SMR:

P05186

String:

P05186

MIM:

146300

UniGene:

Hs.75431

Pfam:

PF00245

Uniprot:

P05186

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ELISA Kit for Human AP-TNAP

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E1091h

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96T

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ELISA Kit for Human AP-TNAP

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E1091m

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96T

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ELISA Kit for Human AP-TNAP

Cat.:

E1091r

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96T

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ELISA Kit for Human AP-TNAP

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E1091b

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96T

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ELISA Kit for Human AP-TNAP

Cat.:

E1091c

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96T

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CLIA Kit for Human AP-TNAP

Cat.:

U1091r

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96T

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CLIA Kit for Human AP-TNAP

Cat.:

U1091m

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Looking for manual.

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Packing:

96T

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CLIA Kit for Human AP-TNAP

Cat.:

U1091h

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Looking for manual.

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96T

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CLIA Kit for Human AP-TNAP

Cat.:

U1091c

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96T

CLIA Kit for Human AP-TNAP

Cat.:

U1091b

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96T

Polyclonal Antibody for Human AP-TNAP

Cat.:

P1091Rb-m

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40ug/0.2ml

Polyclonal Antibody for Human AP-TNAP

Cat.:

P1091Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human AP-TNAP

Cat.:

P1091Rb-r

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40ug/0.2ml

Polyclonal Antibody for Human AP-TNAP

Monoclonal Antibody for Human AP-TNAP

Protein for Human AP-TNAP

Cat.:

R1091h

Price:

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Packing:

1mg

Purity:

>90%

Protein for Human AP-TNAP

R&D Technical Data

12% SDS-PAGE analysis

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.

"Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase."
Weiss M.J. , Henthorn P.S. , Lafferty M.A. , Slaughter C. , Raducha M. , Harris H.
Proc. Natl. Acad. Sci. U.S.A.83:7182-7186(1986) [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] (ISOFORM 1)
tissue: Osteosarcoma.
2.

"Structure of the human liver/bone/kidney alkaline phosphatase gene."
Weiss M.J. , Ray K. , Henthorn P.S. , Lamb B. , Kadesch T. , Harris H.
J. Biol. Chem.263:12002-12010(1988) [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]
tissue: Osteosarcoma.
3.

"Nucleotide sequence of the human liver-type alkaline phosphatase cDNA."
Kishi F. , Matsuura S. , Kajii T.
Nucleic Acids Res.17:2129-2129(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] (ISOFORM 1);VARIANT HIS-263
tissue: Liver.
4.

"A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia."
Sugimoto N. , Iwamoto S. , Hoshino Y. , Kajii E.
J. Hum. Genet.43:160-164(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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANT HOPS PHE-289
5.

"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] (ISOFORMS 2 AND 3)
tissue: Hippocampus.
6.

Totoki Y. , Toyoda A. , Takeda T. , Sakaki Y. , Tanaka A. , Yokoyama S. , Ohara O. , Nagase T. , Kikuno R.F.
Submitted (2005-03) 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] (ISOFORM 1);VARIANT HIS-152
tissue: Brain.
7.

"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G. , Barlow K.F. , McLay K.E. , Kaul R. , Swarbreck D. , Dunham A. , Scott C.E. , Howe K.L. , Woodfine K. , Spencer C.C.A. , Jones M.C. , Gillson C. , Searle S. , Zhou Y. , Kokocinski F. , McDonald L. , Evans R. , Phillips K. , more...
Nature441:315-321(2006) [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 GENOMIC DNA]
8.

Mural R.J. , Istrail S. , Sutton 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 (2005-07) 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]
9.

"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] (ISOFORM 1);VARIANT HIS-263
tissue: Brain.
tissue: Cerebellum.
tissue: Lymphoma.
tissue: Peripheral nerve.
10.

"Human liver alkaline phosphatase, purification and partial sequencing: homology with the placental isozyme."
Garattini E. , Hua J.-C. , Pan Y.C.E. , Udenfriend S.
Arch. Biochem. Biophys.245:331-337(1986) [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 18-49
tissue: Liver.
11.

"Chemical nature of intestinal-type alkaline phosphatase in human kidney."
Nishihara Y. , Hayashi Y. , Adachi T. , Koyama I. , Stigbrand T. , Hirano K.
Clin. Chem.38:2539-2542(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: PROTEIN SEQUENCE OF 18-32;GLYCOSYLATION
12.

"Proteomic analysis of glycosylphosphatidylinositol-anchored membrane proteins."
Elortza F. , Nuehse T.S. , Foster L.J. , Stensballe A. , Peck S.C. , Jensen O.N.
Mol. Cell. Proteomics2:1261-1270(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: GPI-ANCHOR [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
13.

"Modification-specific proteomics of plasma membrane proteins: identification and characterization of glycosylphosphatidylinositol-anchored proteins released upon phospholipase D treatment."
Elortza F. , Mohammed S. , Bunkenborg J. , Foster L.J. , Nuehse T.S. , Brodbeck U. , Peck S.C. , Jensen O.N.
J. Proteome Res.5:935-943(2006) [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: GPI-ANCHOR [LARGE SCALE ANALYSIS]
tissue: Cervix carcinoma.
14.

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
J. Proteome Res.8:651-661(2009) [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-430
tissue: Liver.
15.

"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T. , Prokhorova T.A. , Akimov V. , Henningsen J. , Johansen P.T. , Kratchmarova I. , Kassem M. , Mann M. , Olsen J.V. , Blagoev B.
Sci. Signal.4:RS3-RS3(2011) [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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
16.

"A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia."
Weiss M.J. , Cole D.E.C. , Ray K. , Whyte M.P. , Lafferty M.A. , Mulivor R.A. , Harris H.
Proc. Natl. Acad. Sci. U.S.A.85:7666-7669(1988) [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 HOPS THR-179
17.

"Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia."
Henthorn P.S. , Raducha M. , Fedde K.N. , Lafferty M.A. , Whyte M.P.
Proc. Natl. Acad. Sci. U.S.A.89:9924-9928(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 HOPS VAL-33; CYS-71; PRO-71; LYS-191; PRO-207; ALA-294; VAL-378 AND HIS-436;VARIANT HIS-263
18.

"A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites."
Greenberg C.R. , Taylor C.L. , Haworth J.C. , Seargeant L.E. , Philipps S. , Triggs-Raine B. , Chodirker B.N.
Genomics17:215-217(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 HOPS ASP-334
19.

"Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia."
Orimo H. , Hayashi Z. , Watanabe A. , Hirayama T. , Hirayama T. , Shimada T.
Hum. Mol. Genet.3:1683-1684(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 HOPS LYS-298
20.

"Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia."
Ozono K. , Yamagata M. , Michigami T. , Nakajima S. , Sakai N. , Cai G. , Satomura K. , Yasui N. , Okada S. , Nakayama M.
J. Clin. Endocrinol. Metab.81:4458-4461(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 HOPS LEU-327 AND ARG-456
21.

"Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia."
Mornet E. , Taillandier A. , Peyramaure S. , Kaper F. , Muller F. , Brenner R. , Bussiere P. , Freisinger P. , Godard J. , Le Merrer M. , Oury J.F. , Plauchu H. , Puddu R. , Rival J.M. , Superti-Furga A. , Touraine R.L. , Serre J.L. , Simon-Bouy B.
Eur. J. Hum. Genet.6:308-314(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 HOPS PHE-17; VAL-40; SER-75; ARG-120; ARG-129; ASP-170; TRP-184; LYS-191; TRP-223; LYS-291; ASP-334; PRO-445; CYS-450; SER-473 AND ARG-491;VARIANT HIS-263
22.

"Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients."
Goseki-Sone M. , Orimo H. , Iimura T. , Takagi Y. , Watanabe H. , Taketa K. , Sato S. , Mayanagi H. , Shimada T. , Oida S.
Hum. Mutat. Suppl.1:S263-S267(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 HOPS THR-111; THR-177; GLY-191; LEU-327 AND ILE-382
23.

"Correlations of genotype and phenotype in hypophosphatasia."
Zurutuza L. , Muller F. , Gibrat J.F. , Taillandier A. , Simon-Bouy B. , Serre J.L. , Mornet E.
Hum. Mol. Genet.8:1039-1046(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: VARIANTS HOPS VAL-40; LEU-62; SER-75; THR-111; ARG-120; ARG-129; HIS-136; VAL-162; ASP-170; TYR-171; TRP-184; LYS-191; TRP-223; VAL-249; LYS-291; VAL-306; ASP-334; CYS-391; PRO-445; CYS-450; SER-473; LYS-476 AND ARG-491;3D-STRUCTURE MODELING;CHARACTERIZATION OF VARIANTS
24.

"Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia."
Taillandier A. , Zurutuza L. , Muller F. , Simon-Bouy B. , Serre J.L. , Bird L. , Brenner R. , Boute O. , Cousin J. , Gaillard D. , Heidemann P.H. , Steinmann B. , Wallot M. , Mornet E.
Hum. Mutat.13:171-172(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: VARIANTS HOPS LEU-62; HIS-136; VAL-162; TYR-171; LYS-191; TYR-201; VAL-249; VAL-306 AND LYS-476
25.

"Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene."
Mochizuki H. , Saito M. , Michigami T. , Ohashi H. , Koda N. , Yamaguchi S. , Ozono K.
Eur. J. Pediatr.159:375-379(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 HOPS GLU-224 AND CYS-426
26.

"Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia."
Taillandier A. , Cozien E. , Muller F. , Merrien Y. , Bonnin E. , Fribourg C. , Simon-Bouy B. , Serre J.L. , Bieth E. , Brenner R. , Cordier M.P. , De Bie S. , Fellmann F. , Freisinger P. , Hesse V. , Hennekam R.C.M. , Josifova D. , Kerzin-Storrar L. , more...
Hum. Mutat.15:293-293(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 HOPS VAL-40; THR-111; ASN-134; THR-176; LYS-191; TYR-201; SER-246; THR-348; ARG-381; GLY-406; HIS-450; ILE-478 AND SER-489
27.

"Asp361Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme."
Mueller H.L. , Yamazaki M. , Michigami T. , Kageyama T. , Schoenau E. , Schneider P. , Ozono K.
J. Clin. Endocrinol. Metab.85:743-747(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 HOPS VAL-378;VARIANT ALA-522
28.

"Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene."
Sergi C. , Mornet E. , Troeger J. , Voigtlaender T.
Am. J. Med. Genet.103:235-240(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 HOPS SER-417
29.

"A molecular approach to dominance in hypophosphatasia."
Lia-Baldini A.S. , Muller F. , Taillandier A. , Gibrat J.F. , Mouchard M. , Robin B. , Simon-Bouy B. , Serre J.L. , Aylsworth A.S. , Bieth E. , Delanote S. , Freisinger P. , Hu J.C.-C. , Krohn H.-P. , Nunes M.E. , Mornet E.
Hum. Genet.109:99-108(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: CHARACTERIZATION OF VARIANTS HOPS VAL-40; VAL-63; THR-116; LEU-181; TRP-184; TRP-223; VAL-249; VAL-378; ILE-478 AND PHE-490
30.

"Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia."
Taillandier A. , Lia-Baldini A.S. , Mouchard M. , Robin B. , Muller F. , Simon-Bouy B. , Serre J.L. , Bera-Louville A. , Bonduelle M. , Eckhardt J. , Gaillard D. , Myhre A.G. , Koertge-Jung S. , Larget-Piet L. , Malou E. , Sillence D. , Temple I.K. , Viot G. , more...
Hum. Mutat.18:83-84(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: VARIANTS HOPS CYS-28; VAL-40; VAL-51; HIS-71; THR-116; HIS-136; HIS-152; THR-176; THR-179; LYS-191; ASP-211; VAL-220; GLY-235; TYR-294; GLY-327; SER-399; ALA-423 AND MET-459
31.

"Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia."
Orimo H. , Girschick H.J. , Goseki-Sone M. , Ito M. , Oda K. , Shimada T.
J. Bone Miner. Res.16:2313-2319(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: VARIANTS HOPS MET-68; SER-71; THR-177; TRP-223; PRO-275 AND HIS-391;CHARACTERIZATION OF VARIANTS HOPS MET-68; SER-71; THR-177; TRP-223; PRO-275 AND HIS-391;VARIANT ALA-522;CHARACTERIZATION OF VARIANT ALA-522
32.

"A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia."
Watanabe H. , Hashimoto-Uoshima M. , Goseki-Sone M. , Orimo H. , Ishikawa I.
Oral Dis.7:331-335(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 HOPS VAL-132
33.

"Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions."
Litmanovitz I. , Reish O. , Dolfin T. , Arnon S. , Regev R. , Grinshpan G. , Yamazaki M. , Ozono K.
J. Inherit. Metab. Dis.25:35-40(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 HOPS LYS-291 AND ARG-326
34.

"Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia."
Mumm S. , Jones J. , Finnegan P. , Henthorn P.S. , Podgornik M.N. , Whyte M.P.
Mol. Genet. Metab.75:143-153(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 HOPS SER-51; HIS-71; THR-111; MET-128; HIS-134; HIS-136; THR-176; LYS-191; GLN-223; TRP-223; SER-246; ALA-294; PRO-299; PHE-327 DEL; ARG-339; THR-348; VAL-378; MET-414; ASP-426 AND LYS-476;VARIANTS HIS-263 AND ALA-522
35.

"Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene."
Spentchian M. , Merrien Y. , Herasse M. , Dobbie Z. , Glaeser D. , Holder S.E. , Ivarsson S.-A. , Kostiner D. , Mansour S. , Norman A. , Roth J. , Stipoljev F. , Taillemite J.-L. , van der Smagt J.J. , Serre J.-L. , Simon-Bouy B. , Taillandier A. , Mornet E.
Hum. Mutat.22:105-106(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: VARIANTS HOPS VAL-62; ARG-63; THR-111; ILE-148; SER-162; GLU-189; ALA-220; LEU-272; GLY-293-294-ASP DEL; LYS-311; LYS-452 AND THR-468
36.

"Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene."
Herasse M. , Spentchian M. , Taillandier A. , Keppler-Noreuil K. , Fliorito A.N.M. , Bergoffen J. , Wallerstein R. , Muti C. , Simon-Bouy B. , Mornet E.
J. Med. Genet.40:605-609(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: VARIANTS HOPS LEU-108; THR-116 AND MET-414;CHARACTERIZATION OF VARIANT HOPS LEU-108
37.

"Childhood hypophosphatasia: a case report due to a novel mutation."
Draguet C. , Gillerot Y. , Mornet E.
Arch. Pediatr.11:440-443(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 HOPS GLY-114
38.

"Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations."
Brun-Heath I. , Taillandier A. , Serre J.-L. , Mornet E.
Mol. Genet. Metab.84:273-277(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 HOPS VAL-33; HIS-136; GLN-223; TRP-223; HIS-272; THR-292; ALA-294; THR-295; ASP-297; ASP-334 AND ALA-411;CHARACTERIZATION OF VARIANTS HOPS VAL-33; HIS-272; THR-292; THR-295; ASP-297 AND ALA-411

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