Article
Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.
American journal of human genetics - 1 Nov 1995
Rousseau F, Rouillard P, Morel M L, Khandjian E W, Morgan K
Abstract excerpt
The fragile X syndrome is the second leading cause of mental retardation after Down syndrome. Fragile X premutations are not associated with any clinical phenotype but are at high risk of expanding to full mutations causing the disease when they are transmitted by a carrier woman. There is no rel...
Topics
- Alleles
- Base Sequence
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- France
- Genetic Linkage
- Genetic Testing
- Genetics, Population
- Heterozygote
- Humans
- Molecular Sequence Data
- Nerve Tissue Proteins
- Prevalence
- Quebec
- RNA-Binding Proteins
- Repetitive Sequences, Nucleic Acid