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Journal Abstract Search

91 related items for PubMed ID: 2545800

  • 1.
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  • 2. The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease.
    Kornreich R, Bishop DF, Desnick RJ.
    Trans Assoc Am Physicians; 1989; 102():30-43. PubMed ID: 2561643
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  • 3. [Alpha-galactosidase A deficiency--Fabry's disease].
    Tsuji S.
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):745-8. PubMed ID: 2855953
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  • 7. Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.
    Kornreich R, Bishop DF, Desnick RJ.
    J Biol Chem; 1990 Jun 05; 265(16):9319-26. PubMed ID: 2160973
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  • 8. Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.
    Ploos van Amstel JK, Jansen RP, de Jong JG, Hamel BC, Wevers RA.
    Hum Mol Genet; 1994 Mar 05; 3(3):503-5. PubMed ID: 8012363
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  • 9. Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
    Bernstein HS, Bishop DF, Astrin KH, Kornreich R, Eng CM, Sakuraba H, Desnick RJ.
    J Clin Invest; 1989 Apr 05; 83(4):1390-9. PubMed ID: 2539398
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  • 13. Fabry disease: molecular diagnosis of hemizygotes and heterozygotes.
    Desnick RJ, Bernstein HS, Astrin KH, Bishop DF.
    Enzyme; 1987 Apr 05; 38(1-4):54-64. PubMed ID: 2831042
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  • 14. Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A.
    Calhoun DH, Bishop DF, Bernstein HS, Quinn M, Hantzopoulos P, Desnick RJ.
    Proc Natl Acad Sci U S A; 1985 Nov 05; 82(21):7364-8. PubMed ID: 2997789
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  • 15. Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
    Davies J, Christomanou H, Winchester B, Malcolm S.
    Hum Mol Genet; 1994 Apr 05; 3(4):667-9. PubMed ID: 8069316
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  • 16. Human gene mutations. Gene symbol: GLA. Disease: Fabry disease.
    Lin WD, Hwu WL, Liu SC, Chen CP, Tsai FJ.
    Hum Genet; 2007 Sep 05; 122(2):212. PubMed ID: 18386366
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  • 17. Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity.
    Yoshimitsu M, Higuchi K, Miyata M, Devine S, Mattman A, Sirrs S, Medin JA, Tei C, Takenaka T.
    J Cardiol; 2011 May 05; 57(3):345-53. PubMed ID: 21333496
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  • 18. Mutation analysis in patients with the typical form of Anderson-Fabry disease.
    Davies JP, Winchester BG, Malcolm S.
    Hum Mol Genet; 1993 Jul 05; 2(7):1051-3. PubMed ID: 8395937
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  • 19. New point mutation (R301X) of the alpha-galactosidase A gene causing Fabry disease.
    Kawanishi C, Osaka H, Inoue K, Onishi H, Yamada Y, Sugiyama N, Suzuki K, Hanihara T, Miyagawa T, Kimura S.
    Hum Mutat; 1995 Jul 05; 6(2):186-7. PubMed ID: 7581405
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  • 20. Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
    Schäfer E, Baron K, Widmer U, Deegan P, Neumann HP, Sunder-Plassmann G, Johansson JO, Whybra C, Ries M, Pastores GM, Mehta A, Beck M, Gal A.
    Hum Mutat; 2005 Apr 05; 25(4):412. PubMed ID: 15776423
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