Article
Allelic instability in mitosis: a unified model for dominant disorders.
Proceedings of the National Academy of Sciences of the United States of America - 1 Nov 1993
Zheng C J, Byers B, Moolgavkar S H
Abstract excerpt
Recent findings indicate that tandemly repeated triplet sequences in certain disease-causing human genes may render these genes highly unstable not only in meiosis but also in mitosis. Typically, a dominant mutation arises upon expansion in the number of these repeated elements. We have considere...
Topics
- Alleles
- Chromosome Aberrations
- Female
- Fragile X Syndrome
- Genes, Dominant
- Genetic Carrier Screening
- Genetic Diseases, Inborn
- Humans
- Male
- Mitosis
- Models, Genetic
- Mutation
- Myotonic Dystrophy
- Phenotype