Article
Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.
European journal of human genetics : EJHG - 1 Oct 2009
Rodriguez-Revenga Laia, Madrigal Irene, Pagonabarraga Javier, Xunclà Mar, Badenas Celia, Kulisevsky Jaime, Gomez Beatriz, Milà Montserrat
Abstract excerpt
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 approximately 20% of female premutation carriers present primary ovarian insufficiency (POI) and that fragile...
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