Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessiveCOL7A1mutation

Authors :: Sandrina Turczynski
Dedee F. Murrell
Matthias Titeux
H.I. Cohn
Alain Hovnanian
N. Pironon
Source :: British Journal of Dermatology. 174:1122-1125
Publication Year :: 2016
Publisher :: Oxford University Press (OUP), 2016.

Subjects :: 0301 basic medicine
Genetics
Genetic heterogeneity
business.industry
Inheritance (genetic algorithm)
Dermatology
Bioinformatics
030207 dermatology & venereal diseases
03 medical and health sciences
Dystrophic epidermolysis bullosa
030104 developmental biology
0302 clinical medicine
Mutation (genetic algorithm)
Glycine
Medicine
business

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