Article
Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation.
The Journal of clinical investigation - 15 May 1999
Darling T N, Yee C, Bauer J W, Hintner H, Yancey K B
Abstract excerpt
Generalized atrophic benign epidermolysis bullosa is an autosomal recessive subepidermal blistering disease typified by null mutations in COL17A1. In 1 large kindred, affected individuals were homozygous for a 2-bp deletion in COL17A1, 4003delTC, which resulted in a downstream premature termination codon, nonsense-mediated mRNA decay, and abrogation of type XVII collagen synthesis. Interestingly, 1 of these...
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