Article
Cysteine-to-arginine point mutation in a 'hybrid' eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly.
Journal of cell science - 1 Mar 1995
Kielty C M, Rantamäki T, Child A H, Shuttleworth C A, Peltonen L
Abstract excerpt
Mutations in the FBN1 gene encoding the microfibrillar glycoprotein fibrillin cause Marfan syndrome, a relatively common autosomal dominant connective tissue disease. Causative FBN1 mutations appear to be dispersed throughout the coding frame, and to date no predictable genotype: phenotype correl...
Topics
- Actin Cytoskeleton
- Alleles
- Amino Acid Sequence
- Base Sequence
- DNA Primers
- DNA, Complementary
- Fibrillin-1
- Fibrillins
- Gene Expression
- Humans
- Macromolecular Substances
- Male
- Marfan Syndrome
- Microfilament Proteins
- Microscopy, Electron
- Middle Aged
- Molecular Sequence Data
- Phenotype