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Journal Abstract Search

334 related items for PubMed ID: 8528203

  • 1. A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.
    Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SK, Pereira L, Akiyama J, Roberds SL, Campbell KP, Zatz M.
    Hum Mol Genet; 1995 Jul; 4(7):1163-7. PubMed ID: 8528203
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  • 2. Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.
    Passos-Bueno MR, Moreira ES, Marie SK, Bashir R, Vasquez L, Love DR, Vainzof M, Iughetti P, Oliveira JR, Bakker E, Strachan T, Bushby K, Zatz M.
    J Med Genet; 1996 Feb; 33(2):97-102. PubMed ID: 8929943
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  • 3. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy.
    Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tomé FM, Romero NB.
    Cell; 1994 Aug 26; 78(4):625-33. PubMed ID: 8069911
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  • 6. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.
    Nigro V, de Sá Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M.
    Nat Genet; 1996 Oct 26; 14(2):195-8. PubMed ID: 8841194
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  • 7. [Adhalin gene mutations in malignant limb-girdle muscular dystrophy and clinical features in adhalin-deficient muscular dystrophy].
    Endo T, Akaike M, Kawai H, Matsumura K, Saito S.
    Rinsho Shinkeigaku; 1996 Mar 26; 36(3):415-22. PubMed ID: 8741343
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  • 9. Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.
    Romero NB, Tomé FM, Leturcq F, el Kerch FE, Azibi K, Bachner L, Anderson RD, Roberds SL, Campbell KP, Fardeau M.
    C R Acad Sci III; 1994 Jan 26; 317(1):70-6. PubMed ID: 7987694
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  • 11. Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.
    McNally EM, Yoshida M, Mizuno Y, Ozawa E, Kunkel LM.
    Proc Natl Acad Sci U S A; 1994 Oct 11; 91(21):9690-4. PubMed ID: 7937874
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  • 14. Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12.
    Azibi K, Bachner L, Beckmann JS, Matsumura K, Hamouda E, Chaouch M, Chaouch A, Ait-Ouarab R, Vignal A, Weissenbach J.
    Hum Mol Genet; 1993 Sep 11; 2(9):1423-8. PubMed ID: 8242065
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  • 16. [Adhalin(alpha-sarcoglycan) gene mutations in patients with malignant limb-girdle muscular dystrophy (MLGMD) (Miyoshi)].
    Endo T, Kawai H.
    Nihon Rinsho; 1997 Dec 11; 55(12):3159-64. PubMed ID: 9436428
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