Article
Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessive COL7A1 mutation.
The British journal of dermatology - 1 May 2016
Turczynski S, Titeux M, Pironon N, Cohn H I, Murrell D F, Hovnanian A
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