Article
Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.
Circulation - 1 Dec 1996
Milewicz D M, Michael K, Fisher N, Coselli J S, Markello T, Biddinger A
Abstract excerpt
BACKGROUND: Mutations in the FBN1 gene are the cause of the Marfan syndrome, an autosomal dominant disorder with skeletal, ocular, and cardiovascular complications. Aneurysms or dissections of the ascending thoracic aorta are the major cardiovascular complications of the disorder. We tested the h...
Topics
- Adult
- Aortic Aneurysm, Thoracic
- DNA
- Fibrillin-1
- Fibrillins
- Fibroblasts
- Genome, Human
- Humans
- Male
- Microfilament Proteins
- Mutation
- Polymorphism, Single-Stranded Conformational
- Skin