Article
The structural and functional diversity of dystrophin.
Nature genetics - 1 Apr 1993
Ahn A H, Kunkel L M
Abstract excerpt
Duchenne and Becker muscular dystrophies are caused by defects of the dystrophin gene. Expression of this large X-linked gene is under elaborate transcriptional and splicing control. At least five independent promoters specify the transcription of their respective alternative first exons in a cell-specific and developmentally controlled manner. Three promoters express full-length dystrophin, while two promoters...
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