Article
A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.
The Journal of clinical investigation - 1 Nov 1990
Kontusaari S, Tromp G, Kuivaniemi H, Romanic A M, Prockop D J
Abstract excerpt
Experiments were carried out to test the hypothesis that familial aortic aneurysms, either thoracic or abdominal, are caused by mutations in the gene for type III procollagen (COL3A1) similar to mutations in the same gene that have been shown to cause rupture of aorta and other disastrous consequences in the rare genetic disorder known as Ehlers-Danlos syndrome type IV. A family was identified through a 37-yr-old...
Topics
- Adult
- Aorta
- Aortic Aneurysm
- Base Sequence
- Cells, Cultured
- Female
- Fibroblasts
- Genes
- Humans
- Male
- Molecular Sequence Data
- Mutation