Dystrophin: Gene, Protein and Cell Biology

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The Duchenne muscular dystrophy gene gives rise to transcripts of several lengths. These mRNAs differ in their coding content and tissue distribution. The 14 kb mRNA encodes dystrophin, a 427 kDa protein found in muscle and brain, and the short transcripts described encode DP71, a 77 kDa protein found in various organs. These short transcripts have many features common to the deduced primary st...

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Splice site selection in the dystrophin gene

The dystrophin gene is the largest gene in the human genome, and it codes for a protein which plays an important role in anchoring the cytoskeleton to the cell membrane. Mutations in the gene may cause Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD), an allelic variant. Currently genetic therapy holds great promise in finding a cure through exon skipping by restoring the pr...

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ژورنال

عنوان ژورنال: Journal of the Royal Society of Medicine

سال: 1997

ISSN: 0141-0768,1758-1095

DOI: 10.1177/014107689709000921