Article
Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa.
The Journal of investigative dermatology - 1 Dec 1999
Pulkkinen L, Marinkovich M P, Tran H T, Lin L, Herron G S, Uitto J
Abstract excerpt
Generalized atrophic benign epidermolysis bullosa, GABEB (OMIM# 226650), is a nonlethal variant of epidermolysis bullosa with autosomal recessive inheritance pattern. The pathogenesis of this disorder can be caused by mutations affecting two different gene/protein systems. Most of the mutations have been identified in the BPAG2/COL17A1 gene encoding a hemidesmosomal transmembrane protein, the 180 kDa bullous...
Topics
- Adult
- Autoantigens
- Carrier Proteins
- Collagen
- Cytoskeletal Proteins
- Dystonin
- Epidermolysis Bullosa, Junctional
- Female
- Heterozygote
- Humans
- Mutation
- Nerve Tissue Proteins
- Non-Fibrillar Collagens
- Reverse Transcriptase Polymerase Chain Reaction