Article
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
American journal of human genetics - 1 Sept 1997
Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers C A, Prost C, Fraitag S, Christiano A M, Uitto J, Lathrop M, Barrandon Y, de Prost Y
Abstract excerpt
We have characterized 21 mutations in the type VII collagen gene (COL7A1) encoding the anchoring fibrils, 18 of which were not previously reported, in patients from 15 unrelated families with recessive dystrophic epidermolysis bullosa (RDEB). COL7A1 mutations in both alleles were identified by sc...
Topics
- Alleles
- Arginine
- Basement Membrane
- Codon, Terminator
- Collagen
- Epidermolysis Bullosa Dystrophica
- Gene Expression
- Genes, Recessive
- Genotype
- Glycine
- Humans
- Keratinocytes
- Mutation
- RNA Splicing