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Journal Abstract Search

146 related items for PubMed ID: 8364547

  • 1. 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
    [No Abstract] [Full Text] [Related]

  • 2. 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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  • 3. 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 XQ, Yamada Y, Fukuda S, Orii T, Kondo N.
    J Inherit Metab Dis; 1998 Feb; 21(1):60-70. PubMed ID: 9501270
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  • 4. 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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  • 5. Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene.
    Flomen RH, Green EP, Green PM, Bentley DR, Giannelli F.
    Hum Mol Genet; 1993 Jan; 2(1):5-10. PubMed ID: 8490623
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  • 6. 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 Jan; 5(1):97-100. PubMed ID: 7728156
    [No Abstract] [Full Text] [Related]

  • 7. Hunter syndrome: gene deletions and rearrangements.
    Froissart R, Blond JL, Maire I, Guibaud P, Hopwood JJ, Mathieu M, Bozon D.
    Hum Mutat; 1993 Jan; 2(2):138-40. PubMed ID: 8318991
    [No Abstract] [Full Text] [Related]

  • 8. Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
    Bunge S, Steglich C, Zuther C, Beck M, Morris CP, Schwinger E, Schinzel A, Hopwood JJ, Gal A.
    Hum Mol Genet; 1993 Nov; 2(11):1871-5. PubMed ID: 8281149
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  • 10. Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions.
    Karsten S, Voskoboeva E, Krasnopolskaja X, Bondeson ML.
    Hum Mutat; 1999 Nov; 14(6):471-6. PubMed ID: 10571944
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  • 13. Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.
    Gal A, Beck M, Sewell AC, Morris CP, Schwinger E, Hopwood JJ.
    J Inherit Metab Dis; 1992 Nov; 15(3):342-6. PubMed ID: 1357230
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  • 14. 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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  • 15. Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.
    Crotty PL, Braun SE, Anderson RA, Whitley CB.
    Hum Mol Genet; 1992 Dec; 1(9):755-7. PubMed ID: 1284597
    [No Abstract] [Full Text] [Related]

  • 16. Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online.
    Hartog C, Fryer A, Upadhyaya M.
    Hum Mutat; 1999 Dec; 14(1):87. PubMed ID: 10447264
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  • 17. Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28.
    Rathmann M, Bunge S, Steglich C, Schwinger E, Gal A.
    Hum Genet; 1995 Jan; 95(1):34-8. PubMed ID: 7814022
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