Article
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study.
The New England journal of medicine - 2 Apr 1992
Tsipouras P, Del Mastro R, Sarfarazi M, Lee B, Vitale E, Child A H, Godfrey M, Devereux R B, Hewett D, Steinmann B
Abstract excerpt
BACKGROUND: The large glycoprotein fibrillin is a structural component of elastin-containing microfibrils found in many tissues. The Marfan syndrome has been linked to the fibrillin gene on chromosome 15, but congenital contractural arachnodactyly, which shares some of the physical features of th...
Topics
- Base Sequence
- Chromosomes, Human, Pair 15
- Chromosomes, Human, Pair 5
- Ectopia Lentis
- Female
- Fibrin
- Genetic Linkage
- Humans
- Lod Score
- Male
- Marfan Syndrome