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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Библиографические подробности
Главные авторы: Rodriguez-Revenga, Laia, Madrigal, Irene, Pagonabarraga, Javier, Xunclà, Mar, Badenas, Celia, Kulisevsky, Jaime, Gomez, Beatriz, Milà, Montserrat
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2009
Предметы:
Short Report
Online-ссылка: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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