Article
A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage.
Journal of medical genetics - 1 May 1993
Rodenhiser D I, Ainsworth P J, Coulter-Mackie M B, Singh S M, Jung J H
Abstract excerpt
Neurofibromatosis type 1 (NF1) is a common, autosomal dominant genetic disorder with a variety of highly variable symptoms including cutaneous manifestations (such as café au lait spots), Lisch nodules, plexiform neurofibromas, skeletal abnormalities, an increased risk for malignancy, and the dev...
Topics
- Alleles
- Base Sequence
- Blotting, Southern
- Chorionic Villi Sampling
- Chromosomes, Human, Pair 17
- DNA
- Female
- Fetal Diseases
- Gene Frequency
- Genes, Neurofibromatosis 1
- Genetic Linkage
- Genetic Markers
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Neurofibromatosis 1
- Ontario