[PDF][PDF] Epidermolysis bullosa simplex-generalized severe due to p. Glu477Lys mutation in keratin 5: a genotype-phenotype correlation with in silico modeling analysis

L Lalor, M Titeux, F Palisson, I Fuentes, M Yubero… - 2019 - repositorio.udd.cl
Background/Objectives: Epidermolysis bullosa is a group of diseases caused by mutations
in skin structural proteins. Availability of genetic sequencing makes identification of …

Epidermolysis bullosa simplex-generalized severe due to p. Glu477Lys mutation in keratin 5: a genotype-phenotype correlation with in silico modeling analysis

L Lalor, M Titeux, F Palisson, I Fuentes, M Yubero… - 2019 - repositorio.udd.cl
Background/Objectives: Epidermolysis bullosa is a group of diseases caused by mutations
in skin structural proteins. Availability of genetic sequencing makes identification of …