Article
A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa.
The Journal of investigative dermatology - 1 Apr 1996
McGrath J A, Darling T, Gatalica B, Pohla-Gubo G, Hintner H, Christiano A M, Yancey K, Uitto J
Abstract excerpt
The 180-kDa bullous pemphigoid antigen (BPAG2) is a candidate gene/protein for mutations in some forms of junctional epidermolysis bullosa. In this study, we searched for mutations in BPAG2 in a large Austrian pedigree with generalized atrophic benign epidermolysis bullosa, a distinct nonlethal f...
Topics
- Autoantigens
- Base Sequence
- Carrier Proteins
- Collagen
- Cytoskeletal Proteins
- Dystonin
- Epidermolysis Bullosa Dystrophica
- Gene Deletion
- Molecular Sequence Data
- Molecular Weight
- Mutation
- Nerve Tissue Proteins
- Non-Fibrillar Collagens