Article
Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes.
Human genetics - 1 Jan 1992
Stephens K, Kayes L, Riccardi V M, Rising M, Sybert V P, Pagon R A
Abstract excerpt
An interesting feature of neurofibromatosis type 1 (NF1) is its high mutation rate of 1 x 10(-4) per gamete per generation. The molecular basis for frequent NF1 mutation in unknown; the gene is not deletion prone. We have found that in all ten families examined, the apparent new NF1 mutation occu...
Topics
- Chromosomes, Human
- DNA
- Female
- Genes, Neurofibromatosis 1
- Genetic Markers
- Haplotypes
- Humans
- Male
- Mutation
- Paternity
- Pedigree
- Polymorphism, Restriction Fragment Length