Article
The fragile X syndrome: isolation of the FMR-1 gene and characterization of the fragile X mutation.
Chromosoma - 1 Apr 1992
Oostra B A, Verkerk A J
Abstract excerpt
Fragile X syndrome, associated with the fragile X chromosome, is the most common cause of familial mental retardation. A breakthrough has been made in molecular biological research into the fragile X site. In this review we describe the molecular investigations that have led to the isolation of the FMR-1 gene. The nature of the fragile X mutation as well as the implications of the DNA test for the mutation are...
Topics
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Linkage
- Genetic Markers
- Humans
- Male
- Mutation
- Nerve Tissue Proteins
- RNA-Binding Proteins
- X Chromosome