Variable expression of the Fragile X Mental Retardation 1 (FMR1) gene in patients with premature ovarian failure syndrome is not dependent on number of (CGG)n triplets in exon 1.

@article{Schuettler2011VariableEO,
  title={Variable expression of the Fragile X Mental Retardation 1 (FMR1) gene in patients with premature ovarian failure syndrome is not dependent on number of (CGG)n triplets in exon 1.},
  author={Julia Schuettler and Zhen Peng and Jacques Zimmer and Peter M. Sinn and Cornelia von Hagens and Thomas Strowitzki and Peter H. Vogt},
  journal={Human reproduction},
  year={2011},
  volume={26 5},
  pages={1241-51}
}
BACKGROUND Increased expression of the Fragile X Mental Retardation 1 (FMR1) gene in blood cells has been claimed to be associated with variable (CGG)(n) triplet numbers in the 5' untranslated region of this gene. Increased CGG triplet numbers, including that of the so-called premutation range (n= 55-200), were shown to have a risk of <26% to impair ovarian reserve leading to primary ovarian insufficiency and premature ovarian failure (POF). METHODS DNA and RNA samples were isolated from 74… CONTINUE READING
Highly Cited
This paper has 68 citations. REVIEW CITATIONS