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Identification of Novel FMR1 Variants by Massively Parallel Sequencing in Developmentally Delayed Males

Fragile X syndrome (FXS), the most common inherited form of developmental delay, is typically caused by CGG-repeat expansion in FMR1. However, little attention has been paid to sequence variants in FMR1. Through the use of pooled-template massively parallel sequencing, we identified 130 novel FMR1 s...

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Detalhes bibliográficos
Main Authors: Collins, Stephen C., Bray, Steven M., Suhl, Joshua A., Cutler, David J., Coffee, Bradford, Zwick, Michael E., Warren, Stephen T.
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2946449/
https://ncbi.nlm.nih.gov/pubmed/20799337
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33626
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