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Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessive COL 7A1 mutation
Author(s) -
Turczynski S.,
Titeux M.,
Piro N.,
Cohn H.I.,
Murrell D.F.,
Hovnanian A.
Publication year - 2016
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.14312
Subject(s) - genetics , phenotype , mutation , autosomal recessive inheritance , epidermolysis bullosa , inheritance (genetic algorithm) , biology , substitution (logic) , genetic heterogeneity , gene , computer science , programming language
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