Article
Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.
PloS one - 5 Mar 2010
Collins Stephen C, Coffee Brad, Benke Paul J, Berry-Kravis Elizabeth, Gilbert Fred, Oostra Ben, Halley Dicky, Zwick Michael E, Cutler David J, Warren Stephen T
Abstract excerpt
BACKGROUND: Fragile X syndrome (FXS) is caused by loss of function mutations in the FMR1 gene. Trinucleotide CGG-repeat expansions, resulting in FMR1 gene silencing, are the most common mutations observed at this locus. Even though the repeat expansion mutation is a functional null mutation, few conventional mutations have been identified at this locus, largely due to the clinical laboratory focus on the repeat...
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