Article
DNA diagnostics of the Marfan syndrome: application of amplifiable polymorphic markers.
European journal of human genetics : EJHG - 1 Jan 1994
Rantamäki T, Lönnqvist L, Karttunen L, Kainulainen K, Peltonen L
Abstract excerpt
The diagnosis of Marfan syndrome (MFS) is still based on careful clinical examination. There are, however, many factors creating problems in the firm establishment of the correct diagnosis. After the identification of the defective gene in MFS, fibrillin 1 (FBN1), several mutations in this gene have been reported. Since so far all but one of the mutations in FBN1 have been family specific, a common diagnostic DNA...
Topics
- Adolescent
- Adult
- Base Sequence
- Child
- Chromosomes, Human, Pair 15
- DNA Mutational Analysis
- DNA Primers
- Female
- Fibrillin-1
- Fibrillins
- Genetic Linkage