Article
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa.
Nature genetics - 1 Sept 1995
McGrath J A, Gatalica B, Christiano A M, Li K, Owaribe K, McMillan J R, Eady R A, Uitto J
Abstract excerpt
Junctional epidermolysis bullosa (JEB) is a heterogeneous autosomal recessively inherited blistering skin disorder associated with fragility at the dermal-epidermal junction. Characteristic ultrastructural findings in JEB are abnormalities in the hemidesmosome-anchoring filament complexes. These focal attachment structures, which extend from the intracellular compartment of the basal keratinocytes to the...
Topics
- Adolescent
- Antigens, Surface
- Atrophy
- Base Sequence
- DNA Mutational Analysis
- DNA, Complementary
- Desmosomes
- Epidermolysis Bullosa, Junctional
- Heterozygote
- Humans