Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation
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منابع مشابه
Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation.
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. Interestingl...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1999
ISSN: 0021-9738
DOI: 10.1172/jci4338