Article
[Last advances in Fragile X chromosome syndrome].
Medicina - 1 Jan 1995
Bañares V G
Abstract excerpt
The Fragile X syndrome is one of the most frequent forms of mental retardation. The responsible mutation is an unstable repetitive sequence. Since the mutation's discovery, the knowledge about the gene, its protein, function, expression, laboratory detection, phenotype-genotype relationship and r...
Topics
- CpG Islands
- DNA
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Gene Expression Regulation
- Genotype
- Humans
- Male
- Methylation
- Mutation
- Nerve Tissue Proteins
- Phenotype
- RNA-Binding Proteins
- Repetitive Sequences, Nucleic Acid
- Risk Factors