Article
COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture.
The British journal of dermatology - 1 Aug 1996
Pope F M, Narcisi P, Nicholls A C, Germaine D, Pals G, Richards A J
Abstract excerpt
We have recently analysed by histological, protein and molecular DNA techniques 23 mutations of the collagen III gene (COL3A1), most of which cause premature arterial fragility, thin skin and variants of vascular Ehlers-Danlos syndrome. There were 14 glycine substitutions between residues 637 and...
Topics
- Adolescent
- Adult
- Child
- Collagen
- Ehlers-Danlos Syndrome
- Female
- Humans
- Infant
- Male
- Middle Aged
- Mutation
- Phenotype
- Polymerase Chain Reaction
- Rupture, Spontaneous
- Sequence Analysis, DNA
- Skin
- Vascular Diseases