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323 related items for PubMed ID: 14680977

  • 1. Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
    Froissart R, Guffon N, Vanier MT, Desnick RJ, Maire I.
    Mol Genet Metab; 2003 Nov; 80(3):307-14. PubMed ID: 14680977
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  • 2. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
    Yasuda M, Shabbeer J, Benson SD, Maire I, Burnett RM, Desnick RJ.
    Hum Mutat; 2003 Dec; 22(6):486-92. PubMed ID: 14635108
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  • 3. A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease.
    Konoshita T, Mutoh H, Yokoi T, Koni I, Miyamori I, Mabuchi H.
    Clin Nephrol; 2001 Mar; 55(3):243-7. PubMed ID: 11316246
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  • 4. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
    Shabbeer J, Robinson M, Desnick RJ.
    Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228
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  • 5. Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.
    Ishii S, Suzuki Y, Fan JQ.
    Arch Biochem Biophys; 2000 May 15; 377(2):228-33. PubMed ID: 10845698
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  • 8. A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.
    Miyamura N, Araki E, Matsuda K, Yoshimura R, Furukawa N, Tsuruzoe K, Shirotani T, Kishikawa H, Yamaguchi K, Shichiri M.
    J Clin Invest; 1996 Oct 15; 98(8):1809-17. PubMed ID: 8878432
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  • 9. Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A protein.
    Dominissini S, Cariati R, Nevyjel M, Guerci V, Ciana G, Bembi B, Pittis MG.
    Hum Hered; 2004 Oct 15; 57(3):138-41. PubMed ID: 15297807
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  • 13. Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.
    Chen CH, Shyu PW, Wu SJ, Sheu SS, Desnick RJ, Hsiao KJ.
    Hum Mutat; 1998 Oct 15; 11(4):328-30. PubMed ID: 9554750
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  • 14. Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
    Ashley GA, Shabbeer J, Yasuda M, Eng CM, Desnick RJ.
    J Hum Genet; 2001 Oct 15; 46(4):192-6. PubMed ID: 11322659
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  • 19. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
    Garman SC, Garboczi DN.
    J Mol Biol; 2004 Mar 19; 337(2):319-35. PubMed ID: 15003450
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  • 20. [Alpha-galactosidase A gene mutation in a Chinese family with Fabry disease mimicking clinical features of hypertrophic cardiomyopathy].
    Liu HJ, Cao KJ, Li CR, Dai J, Ma JZ, Yong YH, Sun W.
    Zhonghua Xin Xue Guan Bing Za Zhi; 2006 Feb 19; 34(2):143-7. PubMed ID: 16626582
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