Article
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.
Human mutation - 1 Jan 1992
Dietz H C, Saraiva J M, Pyeritz R E, Cutting G R, Francomano C A
Abstract excerpt
The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue with prominent involvement of the ocular, skeletal, and cardiovascular systems. The gene on chromosome 15 encoding fibrillin (FBN1), a 350-kDa glycoprotein component of the extracellular microfibril, is the site of defect in most, if not all cases. Complementary DNA sequence reveals a gene composed largely of epidermal growth...
Topics
- Amino Acid Sequence
- Base Sequence
- Cysteine
- DNA
- DNA Mutational Analysis
- Epidermal Growth Factor
- Fibrillin-1
- Fibrillins
- Humans
- Marfan Syndrome
- Microfilament Proteins