Article
Clinical application of genetic polymorphism in neurofibromatosis type 1.
Annales de genetique - 1 Jan 1996
Clementi M, Boni S, Mammi I, Favarato M, Tenconi R
Abstract excerpt
The authors report the study of DNA polymorphic sequences, 5 intragenic and 5 flanking the NF1 gene, in 87 Italian NF1 families for a total of 142 affected individuals and 204 non-affected relatives. All PCR-based analyses are easy and simple to perform, and require small amounts of DNA. The non...
Topics
- Female
- Genes, Neurofibromatosis 1
- Humans
- Italy
- Male
- Mutation
- Pedigree
- Polymorphism, Genetic
- Prenatal Diagnosis
- Registries
- Retrospective Studies
