Article
Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome.
Human molecular genetics - 1 Dec 1993
Aoyama T, Tynan K, Dietz H C, Francke U, Furthmayr H
Abstract excerpt
Dermal fibroblasts from nine Marfan syndrome patients with missense mutations in the fibrillin-1 gene (FBN1) produced nearly normal amounts of fibrillin as determined by quantitative pulse-chase experiments. However, six of the seven mutations involving substitutions of highly conserved cysteine...
Topics
- Amino Acid Sequence
- Animals
- Binding Sites
- Cattle
- Cells, Cultured
- Conserved Sequence
- Epidermal Growth Factor
- Factor X
- Female
- Fibrillin-1
- Fibrillins
- Fibroblasts
- Humans
- Male
- Marfan Syndrome
- Microfilament Proteins
- Molecular Sequence Data
- Phenotype