Article
Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.
American journal of human genetics - 1 Mar 1997
De Paepe A, Nuytinck L, Hausser I, Anton-Lamprecht I, Naeyaert J M
Abstract excerpt
The Ehlers-Danlos syndrome (EDS) is a heterogeneous connective-tissue disorder of which at least nine subtypes are recognized. Considerable clinical overlap exists between the EDS I and II subtypes, suggesting that both are allelic disorders. Recent evidence based on linkage and transgenic mice s...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Animals
- Cells, Cultured
- Collagen
- Conserved Sequence
- Cysteine
- Ehlers-Danlos Syndrome
- Female
- Genetic Linkage
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Procollagen
- Serine