Article
Mental status and fragile X expression in relation to FMR-1 gene mutation.
European journal of human genetics : EJHG - 1 Jan 1993
de Vries B B, Wiegers A M, de Graaff E, Verkerk A J, Van Hemel J O, Halley D J, Fryns J P, Curfs L M, Niermeijer M F, Oostra B A
Abstract excerpt
The fragile X mental retardation syndrome is caused by unstable expansion of a CGG repeat in the FMR-1 gene. Clinical expression is associated with a large expansion of the CGG repeat. The mutation in the FMR-1 gene and the cytogenetic expression of the fragile site at Xq27.3 have been studied in...
Topics
- Adult
- Base Sequence
- Child
- DNA Mutational Analysis
- Follow-Up Studies
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Gene Expression
- Genes
- Humans
- Intellectual Disability
- Intelligence Tests
- Male
- Molecular Sequence Data
- Mutation
- Nerve Tissue Proteins
- RNA-Binding Proteins
- Repetitive Sequences, Nucleic Acid