Article
A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.
The New England journal of medicine - 21 Jul 1994
Pereira L, Levran O, Ramirez F, Lynch J R, Sykes B, Pyeritz R E, Dietz H C
Abstract excerpt
BACKGROUND: The fibrillin gene encodes a protein in the extracellular matrix, and this protein is widely distributed in elastic tissues. The fibrillin gene is the site of mutations causing Marfan's syndrome. This disorder shows a high degree of clinical variability both between and within familie...
Topics
- Alleles
- Base Sequence
- Cardiovascular Diseases
- DNA, Satellite
- Female
- Fibrillins
- Genetic Linkage
- Haplotypes
- Humans
- Male
- Marfan Syndrome
- Microfilament Proteins
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Genetic