Title : A recurrent 'hot spot' glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII.

Pub. Date : 2014 Jul

PMID : 24794830






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1 A recurrent "hot spot" glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII. Glycine collagen type VII alpha 1 chain Homo sapiens