Article
Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa.
Laboratory investigation; a journal of technical methods and pathology - 1 Feb 1997
Tamai K, Ishida-Yamamoto A, Matsuo S, Iizuka H, Hashimoto I, Christiano A M, Uitto J, McGrath J A
Abstract excerpt
Mutations in the type VII collagen gene (COL7A1) have recently been established as the molecular basis of the inherited blistering skin disorder, dystrophic epidermolysis bullosa. We report a novel combination of COL7A1 mutations in a Japanese patient with an autosomal recessive form of dystrophi...
Topics
- Adult
- Base Sequence
- Cells, Cultured
- Collagen
- Epidermolysis Bullosa
- Genes, Recessive
- Humans
- Male
- Microscopy, Electron
- Microscopy, Immunoelectron
- Molecular Sequence Data
- Mutation
- RNA Splicing
- Skin Diseases