Sunday, April 12, 2009

Distributions of deletions in the dystrophin gene

The frequent deletions in the DMD gene (60% of
patients) are unevenly distributed. Most
frequently involved are exons 43–55 and exons
1–15, roughly corresponding to the F-actin
binding site and the dystroglycan-binding site.
Duplications (in 6% of patients) and point mutations
also occur.

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