Article
Advances in molecular analysis of fragile X syndrome.
JAMA - 16 Feb 1994
Warren S T, Nelson D L
Abstract excerpt
Fragile X syndrome is a common cause of mental retardation that is inherited as an X-linked dominant disorder with reduced penetrance. Fragile X syndrome has been shown to be caused by an unstable CGG repeat within the fragile X mental retardation-1 (FMR1) gene. The repeat is normally polymorphic...
Topics
- DNA
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Testing
- Humans
- Male
- Methylation
- Mutation
- Nerve Tissue Proteins
- RNA-Binding Proteins
- Repetitive Sequences, Nucleic Acid
- X Chromosome