Article
Neurofibromatosis type I (NFI) in Israeli families: linkage analysis as a diagnostic tool.
American journal of medical genetics - 1 Dec 1994
Elyakim S, Lerer I, Zlotogora J, Sagi M, Gelman-Kohan Z, Merin S, Abeliovich D
Abstract excerpt
Linkage analysis of 18 neurofibromatosis type I (NFI) families was performed using intragenic and flanking polymorphic markers. The aims of the analysis were prenatal diagnosis of at-risk fetuses, and of asymptomatic individuals who were relatives of NFI patients. Prenatal diagnosis was performed...
Topics
- Alleles
- Chromosome Mapping
- Family Health
- Female
- Genes, Neurofibromatosis 1
- Genetic Markers
- Humans
- Israel
- Male
- Mutation
- Neurofibromatosis 1
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Pregnancy
- Prenatal Diagnosis
- Recombination, Genetic
- Repetitive Sequences, Nucleic Acid