Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype

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 con...

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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2010
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2832695/
https://ncbi.nlm.nih.gov/pubmed/20221430
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0009476
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