Kahofer, Peter

Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein. [electronic resource] - Pediatric dermatology - 243-8 p. digital

Publication Type: Case Reports; Journal Article

0736-8046

10.1046/j.1525-1470.2003.20312.x doi


Adolescent
Biopsy, Needle
Cell Adhesion Molecules, Neuronal--genetics
Child
Collagen Type VII--genetics
DNA Mutational Analysis
Epidermolysis Bullosa Dystrophica--genetics
Fluorescent Antibody Technique, Indirect
Genes, Recessive
Genetic Predisposition to Disease
Heterozygote
Humans
Immunohistochemistry
Male
Microscopy, Immunoelectron
Mutation
Netherlands
Pedigree
Prognosis
Risk Assessment