Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency.

Horev, L

Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency. [electronic resource] - Clinical and experimental dermatology Jan 2003 - 80-4 p. digital

Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.

0307-6938

10.1046/j.1365-2230.2003.01190.x doi


Adult
Aortic Valve Insufficiency--genetics
Collagen Type VII--genetics
Epidermolysis Bullosa Dystrophica--genetics
Genes, Recessive--genetics
Genotype
Humans
Male
Mutation--genetics
Pedigree
Phenotype