IDS ELISA Kit for Human(Homo sapiens) | EIAab.comIDS ELISA Kit for Human(Homo sapiens)

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IDS (Gene name),

Iduronate 2-sulfatase (Protein name ), IDS_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

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Gene name:

IDS(SIDS);

Protein name:

Iduronate 2-sulfatase;

Alternative:

Alpha-L-iduronate sulfate sulfatase(Idursulfase);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Liver iduronate 2-sulfatase is composed of two major forms (A and B) which contain both a 42 kDa and a 14 kDa polypeptides.

Function:

Required for the lysosomal degradation of heparan sulfate and dermatan sulfate.

Subcellular Location:

Lysosome

Protein Attributes:

Sequence length:

550

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

MIM:

300823

Pfam:

PF00884

STRING:

9606.ENSP00000339801

String:

P22304

UniGene:

Hs.460960

KEGG:

hsa:3423

SMR:

P22304

Uniprot:

P22304

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ELISA Kit for Human Iduronate 2-sulfatase

Cat.:

E0204h

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Packing:

96T

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ELISA Kit for Human Iduronate 2-sulfatase

Cat.:

E0204m

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Looking for manual.

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96T

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CLIA Kit for Human Iduronate 2-sulfatase

Cat.:

U0204h

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Looking for manual.

MSDS:

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96T

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CLIA Kit for Human Iduronate 2-sulfatase

Cat.:

U0204m

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MSDS:

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Packing:

96T

Polyclonal Antibody for Human Iduronate 2-sulfatase

Cat.:

P0204Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human Iduronate 2-sulfatase

Cat.:

P0204Rb-m

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Packing:

40ug/0.2ml

Monoclonal Antibody for Human Iduronate 2-sulfatase

Protein for Human Iduronate 2-sulfatase

R&D Technical Data

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

Precision

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

Recovery

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Linearity

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References

1.

"Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA."
Wilson P.J. , Morris C.P. , Anson D.S. , Occhiodoro T. , Bielicki J. , Clements P.R. , Hopwood J.J.
Proc. Natl. Acad. Sci. U.S.A.87:8531-8535(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] (ISOFORM 1);PROTEIN SEQUENCE OF 34-58 AND 456-473
tissue: Endothelial cell.
2.

"Sequence of the human iduronate 2-sulfatase (IDS) gene."
Wilson P.J. , Meaney C.A. , Hopwood J.J. , Morris C.P.
Genomics17:773-775(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
3.

"130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus."
Timms K.M. , Lu F. , Shen Y. , Pierson C.A. , Muzny D.M. , Gu Y. , Nelson D.L. , Gibbs R.A.
Genome Res.5:71-78(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
4.

"Identification of an alternative transcript from the human iduronate-2-sulfatase (IDS) gene."
Malmgren H. , Carlberg B.M. , Pettersson U. , Bondeson M.L.
Genomics29:291-293(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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2)
tissue: Lymphocyte.
5.

"The DNA sequence of the human X chromosome."
Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , more...
Nature434:325-337(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: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
6.

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]
7.

"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 3)
tissue: Skin.
8.

"Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene."
Flomen R.H. , Green E.P. , Green P.M. , Bentley D.R. , Giannelli F.
Hum. Mol. Genet.2:5-10(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-398
9.

"Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene."
Hopwood J.J. , Bunge S. , Morris C.P. , Wilson P.J. , Steglich C. , Beck M. , Schwinger E. , Gal A.
Hum. Mutat.2:435-442(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: REVIEW ON MPS2 VARIANTS
10.

"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-115
tissue: Liver.
11.

"Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome)."
Bunge S. , Steglich C. , Beck M. , Rosenkranz W. , Schwinger E. , Hopwood J.J. , Gal A.
Hum. Mol. Genet.1:335-339(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 MPS2 ARG-135 AND GLY-422
12.

"Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression."
Crotti P.L. , Bunge S. , Anderson R.A. , Whitley C.B.
Hum. Mol. Genet.1:755-757(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 MPS2 TRP-468
13.

"Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome)."
Bunge S. , Steglich C. , Zuther C. , Beck M. , Morris C.P. , Schwinger E. , Schinzel A. , Hopwood J.J. , Gal A.
Hum. Mol. Genet.2:1871-1875(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: VARIANTS MPS2 ARG-86; ASP-94; ARG-120; PRO-221 AND GLY-422
14.

"Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II)."
Schroeder W. , Wulff K. , Wehnert M. , Seidlitz G. , Herrmann F.H.
Hum. Mutat.4:128-131(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 MPS2 GLU-68; HIS-293; GLY-478 AND ARG-485
15.

"Mutation analysis of Jewish Hunter patients in Israel."
Ben-Simon-Schiff E. , Bach G. , Hopwood J.J. , Abeliovich D.
Hum. Mutat.4:263-270(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 MPS2 PRO-410
16.

"Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene."
Jonsson J.J. , Aronovich E.L. , Braun S.E. , Whitley C.B.
Am. J. Hum. Genet.56:597-607(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: VARIANTS MPS2 TRP-132; TYR-229; ARG-358; HIS-469 AND CYS-523
17.

"Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome)."
Popowska E. , Rathmann M. , Tylki-Szymanska A. , Bunge S. , Steglich C. , Schwinger E. , Gal A.
Hum. Mutat.5:97-100(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: VARIANTS MPS2 LEU-86; ASN-87; PRO-92; ASN-135; CYS-345 AND TRP-468
18.

"Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients."
Sukegawa K. , Tomatsu S. , Fukao T. , Iwata H. , Song X.-Q. , Yamada Y. , Fukuda S. , Isogai K. , Orii T.
Hum. Mutat.6:136-143(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: VARIANTS MPS2 PRO-48; SER-117 DEL; LEU-333; ARG-337; LEU-468 AND GLN-468
19.

"Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome."
Li P. , Huffman P. , Thompson J.N.
Hum. Mutat.5:272-274(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 MPS2 VAL-346
20.

"Mucopolysaccharidosis type II (Hunter syndrome): mutation 'hot spots' in the iduronate-2-sulfatase gene."
Rathmann M. , Bunge S. , Beck M. , Kresse H. , Tylki-Szymanska A. , Gal A.
Am. J. Hum. Genet.59:1202-1209(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 MPS2 ASP-63; THR-85; GLN-86; CYS-88; HIS-88; CYS-108; SER-117 DEL; VAL-125; ARG-134; PHE-184; ASN-252; LEU-333; ILE-347; ARG-403 AND GLN-468
21.

"Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome."
Olsen T.C. , Eiken H.G. , Knappskog P.M. , Kase B.F. , Mansson J.-E. , Boman H. , Apold J.
Hum. Genet.97:198-203(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 MPS2 LEU-333 AND ASP-346
22.

"Mutation analysis in 20 patients with Hunter disease."
Goldenfum S.L. , Young E. , Michelakakis H. , Tsagarakis S. , Winchester B.
Hum. Mutat.7:76-78(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 MPS2 ASP-63; ARG-86; GLY-95; PRO-205; TRP-468 AND GLN-468
23.

"Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons."
Li P. , Thompson J.N.
J. Inherit. Metab. Dis.19:93-94(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 MPS2 LEU-333 AND GLY-334
24.

"Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients."
Villani G.R.D. , Balzano N. , Grosso M. , Salvadore F. , Izzo P. , di Natale P.
Hum. Mutat.10:71-75(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 MPS2 ASP-63; THR-347; GLN-468 AND LEU-468
25.

"Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele."
Sukegawa K. , Song X.-Q. , Masuno M. , Fukao T. , Shimozawa N. , Fukuda S. , Isogai K. , Nishio H. , Matsuo M. , Tomatsu S. , Kondo N. , Orii T.
Hum. Mutat.10:361-367(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 MPS2 GLN-468
26.

"Molecular analysis in 23 Hunter disease families."
Lissens W. , Seneca S. , Liebaers I.
J. Inherit. Metab. Dis.20:453-456(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 MPS2 PHE-73; THR-118 DEL; HIS-121; TRP-132; ARG-336; LYS-341; GLN-347; TRP-468; GLN-468; LYS-521 AND VAL-521
27.

"Mutation analysis in 57 unrelated patients with MPS II."
Vafiadaki E. , Cooper A. , Heptinstall L.E. , Hatton C.E. , Thornley M. , Wraith J.E.
Arch. Dis. Child.79:237-241(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 MPS2 ASN-45; TYR-115; LEU-228; ARG-266; LYS-434; LYS-485 AND CYS-502
28.

"Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients."
Froissart R. , Maire I. , Millat G. , Cudry S. , Birot A.-M. , Bonnet V. , Bouton O. , Bozon D.
Clin. Genet.53:362-368(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 MPS2 ASN-71; SER-85; THR-85; LEU-86; GLY-88; HIS-88; PHE-89; SER-108; SER-117 DEL; ILE-118; ARG-121; ASP-138; HIS-148; ARG-229; LEU-333; ASN-334; ARG-335; GLU-336; ARG-339; ARG-403; LEU-467; GLN-468; TRP-468; ARG-480; GLN-480; LEU-480 AND SER-490
29.

"Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients."
Karsten S. , Voskoboeva E. , Tishkanina S. , Pettersson U. , Krasnopolskaya X. , Bondeson M.-L.
Hum. Genet.103:732-735(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 MPS2 ASP-54; ASP-63; GLU-79; CYS-88; LEU-88; HIS-88; ARG-102; PRO-159; SER-196; GLY-198; GLU-224; LEU-333; ASP-340; TYR-432; GLN-468; TYR-478 AND ARG-485
30.

"Detection of four novel mutations in the iduronate-2-sulfatase gene."
Balzano N. , Villani G.R.D. , Grosso M. , Izzo P. , di Natale P.
Hum. Mutat.11:333-333(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 MPS2 LEU-86; HIS-88; PRO-88; ILE-118 AND HIS-266
31.

"Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease."
Gort L. , Coll M.J. , Chabas A.
Hum. Mutat. Suppl.1:S66-S68(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 MPS2 THR-85; HIS-88; ILE-349 AND VAL-521
32.

"Identification of 9 novel gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients."
Karsten S.L. , Voskoboeva E. , Carlberg B.-M. , Kleijer W.J. , Toennesen T. , Pettersson U. , Bondeson M.-L.
Hum. Mutat.12:433-433(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 MPS2 PHE-143; TRP-184; VAL-269 AND HIS-348
33.

"Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)."
Isogai K. , Sukegawa K. , Tomatsu S. , Fukao T. , Song X.-Q. , Yamada Y. , Fukuda S. , Orii T. , Kondo N.
J. Inherit. Metab. Dis.21:60-70(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 MPS2 PRO-48; THR-85; LEU-86; PRO-182; SER-196; ASP-225; MET-227; ASN-308; PRO-314; LEU-333; ARG-337; ILE-349; GLN-468; LEU-468 AND TRP-468
34.

"Hunter disease in the Spanish population: molecular analysis in 31 families."
Gort L. , Chabas A. , Coll M.J.
J. Inherit. Metab. Dis.21:655-661(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 MPS2 THR-228; ARG-229; LEU-231; GLU-308; ALA-309 AND CYS-313
35.

"Identification of 6 new mutations in the iduronate sulfatase gene."
Vallance H.D. , Bernard L. , Rashed M. , Chiu D. , Le G. , Toone J. , Applegarth D.A. , Coulter-Mackie M.
Hum. Mutat.13:338-338(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 MPS2 PHE-143; LYS-341; TYR-342 AND PHE-491
36.

"Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations."
Hartog C. , Fryer A. , Upadhyaya M.
Hum. Mutat.14:87-87(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 MPS2 ASN-264; PRO-465 AND TRP-468
37.

"Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)."
Li P. , Bellows A.B. , Thompson J.N.
J. Med. Genet.36:21-27(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 MPS2 ARG-71; GLU-82; THR-85; CYS-88; ARG-95 DEL; GLN-468; TRP-468 AND VAL-521
38.

"Expression of five iduronate-2-sulfatase site-directed mutations."
Villani G.R.D. , Daniele A. , Balzano N. , Di Natale P.
Biochim. Biophys. Acta1501:71-80(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: CHARACTERIZATION OF VARIANTS MPS2 HIS-88; PRO-88; ILE-118 AND GLN-468
39.

"MPS II in females: molecular basis of two different cases."
Cudry S. , Tigaud I. , Froissart R. , Bonnet V. , Maire I. , Bozon D.
J. Med. Genet.37:E29-E29(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 MPS2 PRO-41;CHARACTERIZATION OF VARIANT MPS2 PRO-41
40.

"The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II."
Bonuccelli G. , Di Natale P. , Corsolini F. , Villani G. , Regis S. , Filocamo M.
Biochim. Biophys. Acta1537:233-238(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 MPS2 SER-117 DEL; ILE-265 AND THR-347;CHARACTERIZATION OF VARIANTS MPS2 SER-117 DEL; ILE-265 AND THR-347
41.

"Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations."
Moreira da Silva I. , Froissart R. , Marques dos Santos H. , Caseiro C. , Maire I. , Bozon D.
Clin. Genet.60:316-318(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 MPS2 CYS-88; THR-95; ILE-181; ARG-422; LEU-467; GLN-468 AND TRP-468
42.

"Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome."
Ricci V. , Filocamo M. , Regis S. , Corsolini F. , Stroppiano M. , Di Duca M. , Gatti R.
Am. J. Med. Genet. A120:84-87(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 MPS2 488-ILE-ALA-489;CHARACTERIZATION OF VARIANT MPS2 488-ILE-ALA-489
43.

"Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations."
Kim C.H. , Hwang H.Z. , Song S.M. , Paik K.H. , Kwon E.K. , Moon K.B. , Yoon J.H. , Han C.K. , Jin D.-K.
Hum. Mutat.21:449-450(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 MPS2 LEU-41 DEL; TYR-117; PRO-259 AND ILE-299
44.

"Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts."
Lualdi S. , Pittis M.G. , Regis S. , Parini R. , Allegri A.E. , Furlan F. , Bembi B. , Filocamo M.
J. Mol. Med.84:692-700(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: VARIANTS MPS2 VAL-82 AND VAL-140;CHARACTERIZATION OF VARIANTS MPS2 VAL-82 AND VAL-140

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