Article
A homozygous in-frame deletion in the collagenous domain of bullous pemphigoid antigen BP180 (type XVII collagen) causes generalized atrophic benign epidermolysis bullosa.
The Journal of investigative dermatology - 1 Jul 1997
Chavanas S, Gache Y, Tadini G, Pulkkinen L, Uitto J, Ortonne J P, Meneguzzi G
Abstract excerpt
We report a missplicing event affecting the expression of bullous pemphigoid antigen BP180 (type XVII collagen) in a patient with generalized atrophic benign epidermolysis bullosa (GABEB). The segregation of the mutated allele in the family is consistent with the pathogenic role of the mutation. The homozygous mutation 2441-2A --> G disrupts a splice-site sequence in gene (BPAG2) for BP180 and results in an...
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