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Journal Abstract Search

152 related items for PubMed ID: 1357230

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  • 2. Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene.
    Steglich C, Bunge S, Hulsebos T, Beck M, Brandt NJ, Schwinger E, Hopwood JJ, Gal A.
    Hum Genet; 1993 Sep; 92(2):179-82. PubMed ID: 8103756
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  • 3. Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk.
    Schröder W, Petruschka L, Wehnert M, Zschiesche M, Seidlitz G, Hopwood JJ, Herrmann FH.
    J Med Genet; 1993 Mar; 30(3):210-3. PubMed ID: 8097259
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  • 5. The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome).
    Wraith JE, Cooper A, Thornley M, Wilson PJ, Nelson PV, Morris CP, Hopwood JJ.
    Hum Genet; 1991 Jun; 87(2):205-6. PubMed ID: 1906048
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  • 12. Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).
    Schröder W, Wulff K, Wehnert M, Seidlitz G, Herrmann FH.
    Hum Mutat; 1994 Jun; 4(2):128-31. PubMed ID: 7981716
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  • 13. An 8-bp deletion in exon B of the iduronate-2-sulphate sulphatase gene in a case of Hunter disease.
    Goldenfum S, Malcolm S, Winchester B.
    Hum Mol Genet; 1993 Jul; 2(7):1063-5. PubMed ID: 8364547
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  • 15. Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.
    Wilson PJ, Suthers GK, Callen DF, Baker E, Nelson PV, Cooper A, Wraith JE, Sutherland GR, Morris CP, Hopwood JJ.
    Hum Genet; 1991 Mar; 86(5):505-8. PubMed ID: 1901826
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  • 19. Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.
    Sukegawa K, Tomatsu S, Tamai K, Ikeda M, Sasaki T, Masue M, Fukuda S, Yamada Y, Orii T.
    Biochem Biophys Res Commun; 1992 Mar 16; 183(2):809-13. PubMed ID: 1550586
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  • 20. Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence.
    Brusius-Facchin AC, Abrahão L, Schwartz IV, Lourenço CM, Santos ES, Zanetti A, Tomanin R, Scarpa M, Giugliani R, Leistner-Segal S.
    Gene; 2013 Sep 10; 526(2):150-4. PubMed ID: 23707223
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