Article
Triplet repeat mutations in human disease.
Science (New York, N.Y.) - 8 May 1992
Caskey C T, Pizzuti A, Fu Y H, Fenwick R G, Nelson D L
Abstract excerpt
Triplet repeats are the sites of mutation in three human heritable disorders, spinal and bulbar muscular atrophy (SBMA), fragile X syndrome, and myotonic dystrophy (DM). These repeats are GC-rich and highly polymorphic in the normal population. Fragile X syndrome and DM are examples of diseases in which premutation alleles cause little or no disease in the individual, but give rise to significantly amplified...
Topics
- Female
- Fragile X Syndrome
- Genetic Diseases, Inborn
- Humans
- Male
- Muscular Atrophy, Spinal
- Mutation
- Myotonic Dystrophy
- Pedigree
- Repetitive Sequences, Nucleic Acid