Sequence of IDS_HUMAN

iduronate-2-sulfatase

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The DNA sequence of the human X chromosome.

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Hopwood J.J.,Bunge S.,Morris C.P.,Wilson P.J.,Steglich C.,Beck M.,Schwinger E.,Gal A.

Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.

Hum. Mutat.

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Froissart R.,Millat G.,Mathieu M.,Bozon D.,Maire I.

Processing of iduronate 2-sulphatase in human fibroblasts.

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940964

Chen R.,Jiang X.,Sun D.,Han G.,Wang F.,Ye M.,Wang L.,Zou H.

Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

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Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.

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Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).

Hum. Mol. Genet.

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940968

Crotti P.L.,Bunge S.,Anderson R.A.,Whitley C.B.

Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.

Hum. Mol. Genet.

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1992

940969

Bunge S.,Steglich C.,Zuther C.,Beck M.,Morris C.P.,Schwinger E.,Schinzel A.,Hopwood J.J.,Gal A.

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).

Hum. Mol. Genet.

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1871-1875

1993

940970

Schroeder W.,Wulff K.,Wehnert M.,Seidlitz G.,Herrmann F.H.

Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).

Hum. Mutat.

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128-131

1994

940971

Ben-Simon-Schiff E.,Bach G.,Hopwood J.J.,Abeliovich D.

Mutation analysis of Jewish Hunter patients in Israel.

Hum. Mutat.

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263-270

1994

940972

Jonsson J.J.,Aronovich E.L.,Braun S.E.,Whitley C.B.

Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene.

Am. J. Hum. Genet.

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940973

Popowska E.,Rathmann M.,Tylki-Szymanska A.,Bunge S.,Steglich C.,Schwinger E.,Gal A.

Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).

Hum. Mutat.

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97-100

1995

940974

Sukegawa K.,Tomatsu S.,Fukao T.,Iwata H.,Song X.-Q.,Yamada Y.,Fukuda S.,Isogai K.,Orii T.

Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.

Hum. Mutat.

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1995

940975

Li P.,Huffman P.,Thompson J.N.

Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.

Hum. Mutat.

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272-274

1995

940976

Rathmann M.,Bunge S.,Beck M.,Kresse H.,Tylki-Szymanska A.,Gal A.

Mucopolysaccharidosis type II (Hunter syndrome): mutation 'hot spots' in the iduronate-2-sulfatase gene.

Am. J. Hum. Genet.

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940977

Olsen T.C.,Eiken H.G.,Knappskog P.M.,Kase B.F.,Mansson J.-E.,Boman H.,Apold J.

Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome.

Hum. Genet.

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Goldenfum S.L.,Young E.,Michelakakis H.,Tsagarakis S.,Winchester B.

Mutation analysis in 20 patients with Hunter disease.

Hum. Mutat.

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1996

940979

Li P.,Thompson J.N.

Detection of four novel mutations in the iduronate-2-sulphatase gene by single-strand conformation polymorphism analysis of genomic amplicons.

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940980

Villani G.R.D.,Balzano N.,Grosso M.,Salvadore F.,Izzo P.,di Natale P.

Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients.

Hum. Mutat.

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71-75

1997

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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.

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.

Hum. Mutat.

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361-367

1997

940982

Lissens W.,Seneca S.,Liebaers I.

Molecular analysis in 23 Hunter disease families.

J. Inherit. Metab. Dis.

20

453-456

1997

940983

Vafiadaki E.,Cooper A.,Heptinstall L.E.,Hatton C.E.,Thornley M.,Wraith J.E.

Mutation analysis in 57 unrelated patients with MPS II.

Arch. Dis. Child.

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237-241

1998

940984

Froissart R.,Maire I.,Millat G.,Cudry S.,Birot A.-M.,Bonnet V.,Bouton O.,Bozon D.

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.

Clin. Genet.

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362-368

1998

940985

Karsten S.,Voskoboeva E.,Tishkanina S.,Pettersson U.,Krasnopolskaya X.,Bondeson M.-L.

Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients.

Hum. Genet.

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732-735

1998

940986

Balzano N.,Villani G.R.D.,Grosso M.,Izzo P.,di Natale P.

Detection of four novel mutations in the iduronate-2-sulfatase gene.

Hum. Mutat.

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333-333

1998

940987

Gort L.,Coll M.J.,Chabas A.

Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease.

Hum. Mutat. Suppl.

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1998

940988

Karsten S.L.,Voskoboeva E.,Carlberg B.-M.,Kleijer W.J.,Toennesen T.,Pettersson U.,Bondeson M.-L.

Identification of 9 novel gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients.

Hum. Mutat.

12

433-433

1998

940989

Isogai K.,Sukegawa K.,Tomatsu S.,Fukao T.,Song X.-Q.,Yamada Y.,Fukuda S.,Orii T.,Kondo N.

Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).

J. Inherit. Metab. Dis.

21

60-70

1998

940990

Gort L.,Chabas A.,Coll M.J.

Hunter disease in the Spanish population: molecular analysis in 31 families.

J. Inherit. Metab. Dis.

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655-661

1998

940991

Vallance H.D.,Bernard L.,Rashed M.,Chiu D.,Le G.,Toone J.,Applegarth D.A.,Coulter-Mackie M.

Identification of 6 new mutations in the iduronate sulfatase gene.

Hum. Mutat.

13

338-338

1999

940992

Hartog C.,Fryer A.,Upadhyaya M.

Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations.

Hum. Mutat.

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87-87

1999

940993

Li P.,Bellows A.B.,Thompson J.N.

Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).

J. Med. Genet.

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21-27

1999

940994

Villani G.R.D.,Daniele A.,Balzano N.,Di Natale P.

Expression of five iduronate-2-sulfatase site-directed mutations.

Biochim. Biophys. Acta

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71-80

2000

940995

Cudry S.,Tigaud I.,Froissart R.,Bonnet V.,Maire I.,Bozon D.

MPS II in females: molecular basis of two different cases.

J. Med. Genet.

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2000

940996

Bonuccelli G.,Di Natale P.,Corsolini F.,Villani G.,Regis S.,Filocamo M.

The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.

Biochim. Biophys. Acta

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233-238

2001

940997

Moreira da Silva I.,Froissart R.,Marques dos Santos H.,Caseiro C.,Maire I.,Bozon D.

Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations.

Clin. Genet.

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316-318

2001

940998

Ricci V.,Filocamo M.,Regis S.,Corsolini F.,Stroppiano M.,Di Duca M.,Gatti R.

Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.

Am. J. Med. Genet. A

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84-87

2003

940999

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.

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations.

Hum. Mutat.

21

449-450

2003

941000

Lualdi S.,Pittis M.G.,Regis S.,Parini R.,Allegri A.E.,Furlan F.,Bembi B.,Filocamo M.

Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.

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2006