Abstract | BACKGROUND: METHODS: RESULTS: CONCLUSIONS: The Marfan syndrome appears to be caused by mutations in a single fibrillin gene on chromosome 15. Diagnosis of the Marfan syndrome by genetic linkage and analysis is now feasible in many families.
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Authors | P Tsipouras, R Del Mastro, M Sarfarazi, B Lee, E Vitale, A H Child, M Godfrey, R B Devereux, D Hewett, B Steinmann |
Journal | The New England journal of medicine
(N Engl J Med)
Vol. 326
Issue 14
Pg. 905-9
(Apr 02 1992)
ISSN: 0028-4793 [Print] United States |
PMID | 1542340
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
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Topics |
- Base Sequence
- Chromosomes, Human, Pair 15
- Chromosomes, Human, Pair 5
- Ectopia Lentis
(genetics)
- Female
- Fibrin
(genetics)
- Genetic Linkage
- Humans
- Lod Score
- Male
- Marfan Syndrome
(diagnosis, genetics)
- Mitral Valve Prolapse
(genetics)
- Molecular Sequence Data
- Phenotype
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