Article
Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy.
Human mutation - 1 Jan 2004
Biggin Andrew, Holman Katherine, Brett Maggie, Bennetts Bruce, Adès Lesley
Abstract excerpt
Marfan syndrome (MFS) is a disorder of the extracellular matrix caused by mutations in the gene encoding fibrillin-1 (FBN1). Recent studies have illustrated the variability in disease severity and clinical manifestations of MFS. Useful genotype-phenotype correlations have been slow to emerge. We screened 57 unrelated patients with MFS or a Marfan-like phenotype using a combination of SSCP and/or DHPLC. We...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- DNA Mutational Analysis
- Fibrillin-1
- Fibrillins
- Genotype
- Humans
- Infant
- Marfan Syndrome
- Microfilament Proteins
- Mutation
- Phenotype