Article
Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa.
The Journal of investigative dermatology - 1 Apr 1997
Darling T N, McGrath J A, Yee C, Gatalica B, Hametner R, Bauer J W, Pohla-Gubo G, Christiano A M, Uitto J, Hintner H, Yancey K B
Abstract excerpt
Patients with generalized atrophic benign epidermolysis bullosa (GABEB), an inherited subepidermal blistering disease, often have no immunologically detectable bullous pemphigoid antigen 2 (BPAG2) in their epidermal basement membrane. Recently, we analyzed the BPAG2 gene (GenBank no. M91669) in an Austrian family with GABEB and identified a homozygous deletion mutation, 4003delTC, that results in a downstream...
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