Article
Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.
The Journal of clinical investigation - 1 Jul 1994
Aoyama T, Francke U, Dietz H C, Furthmayr H
Abstract excerpt
Pulse-chase studies of [35S]cysteine-labeled fibrillin were performed on fibroblast strains from 55 patients with Marfan syndrome (MFS), including 13 with identified mutations in the fibrillin-1 gene and 10 controls. Quantitation of the soluble intracellular and insoluble extracellular fibrillin...
Topics
- Cells, Cultured
- Fibrillin-1
- Fibrillins
- Fibroblasts
- Humans
- Marfan Syndrome
- Microfilament Proteins
- Mutation