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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Rodriguez-Revenga, Laia, Madrigal, Irene, Pagonabarraga, Javier, Xunclà, Mar, Badenas, Celia, Kulisevsky, Jaime, Gomez, Beatriz, Milà, Montserrat
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2009
Schlagworte:
Short Report
Online Zugang: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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