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• W1983806612 abstract "The mdx mouse, an animal model used to study Duchenne muscular dystrophy (DMD), has a nonsense mutation in exon 23 of the dystrophin gene which should result in a truncated protein that cannot be correctly localized at the sarcolemma of the muscle fibres. Immunohistochemical staining with anti-dystrophin antibodies had shown that while most of the muscle tissue was dystrophin-negative, a small percentage of muscle fibres were clearly dystrophin-positive and had somehow by-passed the primary nonsense mutation. A nested PCR-based examination of dystrophin gene transcripts around the mdx mutation revealed several alternatively processed transcripts, of which four mRNA species skipped the mutation in exon 23, were in-frame and could be translated into a shorter, but still functional dystrophin protein. Specific tests for these transcripts demonstrated these were also present in normal adult and embryonic mouse muscle tissue." @default.
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• W1983806612 date "1997-07-01" @default.
• W1983806612 modified "2023-10-11" @default.
• W1983806612 title "Revertant fibres: a possible genetic therapy for Duchenne muscular dystrophy?" @default.
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• W1983806612 doi "https://doi.org/10.1016/s0960-8966(97)00058-8" @default.
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