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7. Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. Manilal S, Recan D, Sewry CA, Hoeltzenbein M, Llense S, Leturcq F, Deburgrave N, Barbot J, Man N, Muntoni F, Wehnert M, Kaplan J, Morris GE. Hum Mol Genet; 1998 May; 7(5):855-64. PubMed ID: 9536090 [Abstract] [Full Text] [Related]
9. [A novel splice-site mutation in the STA gene in a Japanese patient with Emery-Dreifuss muscular dystrophy]. Hasegawa T, Kobayashi K, Arahata K, Itoyama Y. Rinsho Shinkeigaku; 1999 Nov; 39(11):1138-43. PubMed ID: 10689937 [Abstract] [Full Text] [Related]
14. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D. Nat Genet; 1994 Dec; 8(4):323-7. PubMed ID: 7894480 [Abstract] [Full Text] [Related]
15. A protein truncation test for Emery-Dreifuss muscular dystrophy (EMD): detection of N-terminal truncating mutations. de Koning Gans PA, Ginjaar I, Bakker E, Yates JR, den Dunnen JT. Neuromuscul Disord; 1999 Jun; 9(4):247-50. PubMed ID: 10399752 [Abstract] [Full Text] [Related]
16. Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. Ellis JA, Yates JR, Kendrick-Jones J, Brown CA. Hum Genet; 1999 Mar; 104(3):262-8. PubMed ID: 10323252 [Abstract] [Full Text] [Related]
17. Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Bione S, Small K, Aksmanovic VM, D'Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates JR, Warren ST. Hum Mol Genet; 1995 Oct; 4(10):1859-63. PubMed ID: 8595407 [Abstract] [Full Text] [Related]