Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.

Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.

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 mu...

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Bibliographic Details
Main Authors: Stephen C Collins, Brad Coffee, Paul J Benke, Elizabeth Berry-Kravis, Fred Gilbert, Ben Oostra, Dicky Halley, Michael E Zwick, David J Cutler, Stephen T Warren
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-03-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC2832695?pdf=render

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