Article
A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa.
Nature genetics - 1 May 1993
Christiano A M, Greenspan D S, Hoffman G G, Zhang X, Tamai Y, Lin A N, Dietz H C, Hovnanian A, Uitto J
Abstract excerpt
Recessive dystrophic epidermolysis bullosa is a severe mutilating genodermatosis. Previous ultrastructural demonstrations of altered anchoring fibrils, and recent genetic linkage analyses have suggested that type VII collagen, the major component of anchoring fibrils, is a candidate gene. We have...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Child
- Collagen
- Consanguinity
- Cricetinae
- DNA Mutational Analysis
- Epidermolysis Bullosa Dystrophica
- Female
- Genes, Recessive
- Homozygote
- Humans
- Male
- Mice
- Molecular Sequence Data
- Mutation
- Pedigree