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Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

Within the past few years, there has been a significant change in identifying and characterizing the FMR1 premutation associated phenotypes. The premutation has been associated with elevated FMR1 mRNA levels and slight to moderate reductions in FMRP levels. Furthermore, it has been established that...

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Detalhes bibliográficos
Main Authors: Rodriguez-Revenga, Laia, Madrigal, Irene, Pagonabarraga, Javier, Xunclà, Mar, Badenas, Celia, Kulisevsky, Jaime, Gomez, Beatriz, Milà, Montserrat
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986640/
https://ncbi.nlm.nih.gov/pubmed/19367323
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.51
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