Article
A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.
The Journal of molecular diagnostics : JMD - 1 Jan 2008
Tassone Flora, Pan Ruiqin, Amiri Khaled, Taylor Annette K, Hagerman Paul J
Abstract excerpt
Fragile X syndrome, the most common inherited cause of intellectual impairment and the most common single gene associated with autism, generally occurs for fragile X mental retardation 1 (FMR1) alleles that exceed 200 CGG repeats (full-mutation range). Currently, there are no unbiased estimates of the number of full-mutation FMR1 alleles in the general population; a major obstacle is the lack of an effective...
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