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Journal Abstract Search

115 related items for PubMed ID: 7581405

  • 1. 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; 6(2):186-7. PubMed ID: 7581405
    [No Abstract] [Full Text] [Related]

  • 2. 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; 11(4):328-30. PubMed ID: 9554750
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  • 3. 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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  • 5. Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes.
    Ishii S, Sakuraba H, Shimmoto M, Minamikawa-Tachino R, Suzuki T, Suzuki Y.
    Ann Neurol; 1991 May; 29(5):560-4. PubMed ID: 1650161
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  • 7. Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.
    Madsen KM, Hasholt L, Sørensen SA, Fermér ML, Dahl N.
    Hum Mutat; 1995 May; 5(3):277-8. PubMed ID: 7599642
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  • 10. 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; 25(4):412. PubMed ID: 15776423
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  • 12. 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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  • 15. 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 May 15; 46(4):192-6. PubMed ID: 11322659
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  • 18. Gene symbol: GLA. Disease: Fabry disease.
    Serebrinsky GP, Pascucelli V, Politei JM.
    Hum Genet; 2006 Apr 15; 119(3):361. PubMed ID: 17230649
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  • 20. Novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A gene, causing Fabry disease. Mutations in brief no. 146. Online.
    Matsumura T, Osaka H, Sugiyama N, Kawanishi C, Maruyama Y, Suzuki K, Onishi H, Yamada Y, Morita M, Aoki M, Kosaka K.
    Hum Mutat; 1998 Apr 15; 11(6):483. PubMed ID: 10200059
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