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Journal Abstract Search

275 related items for PubMed ID: 7728156

  • 1. 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; 1995; 5(1):97-100. PubMed ID: 7728156
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  • 2. Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.
    Whitley CB, Anderson RA, Aronovich EL, Crotty PL, Anyane-Yeboa K, Russo D, Warburton D.
    Hum Mutat; 1993; 2(3):235-7. PubMed ID: 8364592
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  • 6. 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 XQ, Yamada Y, Fukuda S, Isogai K, Orii T.
    Hum Mutat; 1995; 6(2):136-43. PubMed ID: 7581397
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  • 7. Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
    Hopwood JJ, Bunge S, Morris CP, Wilson PJ, Steglich C, Beck M, Schwinger E, Gal A.
    Hum Mutat; 1993; 2(6):435-42. PubMed ID: 8111411
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  • 9. 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 JJ, Gal A.
    Hum Mol Genet; 1992 Aug; 1(5):335-9. PubMed ID: 1303211
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  • 15. A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome.
    Bonuccelli G, Regis S, Filocamo M, Corsolini F, Caroli F, Gatti R.
    Clin Genet; 1998 Jun; 53(6):474-7. PubMed ID: 9712538
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  • 16. DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.
    Timms KM, Huckett LE, Belmont JW, Shapira SK, Gibbs RA.
    Hum Mutat; 1998 Jun; 11(2):121-6. PubMed ID: 9482575
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  • 17. Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene.
    Filocamo M, Bonuccelli G, Corsolini F, Mazzotti R, Cusano R, Gatti R.
    Hum Mutat; 2001 Aug; 18(2):164-5. PubMed ID: 11462244
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  • 18. Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
    Li P, Bellows AB, Thompson JN.
    J Med Genet; 1999 Jan; 36(1):21-7. PubMed ID: 9950361
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