Article
Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome.
American journal of human genetics - 1 Sept 1994
Hewett D, Lynch J, Child A, Firth H, Sykes B
Abstract excerpt
Marfan syndrome is a connective-tissue disorder affecting cardiovascular, skeletal, and ocular systems. The major Marfan locus has been identified as the FBN1 gene on chromosome 15; this codes for the extracellular-matrix protein fibrillin, a 350-kD constituent of the 8-10-nm elastin-associated m...
Topics
- Adult
- Alleles
- Base Sequence
- Chromosomes, Human, Pair 15
- DNA Mutational Analysis
- DNA Primers
- Deoxyribonucleases, Type II Site-Specific
- Fibrillin-1
- Fibrillins
- Gene Expression
- Genetic Variation
- Heterozygote
- Humans
- Male
- Marfan Syndrome
- Microfilament Proteins
- Middle Aged
- Molecular Sequence Data