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Article

Ovarian Abnormalities in a Mouse Model of Fragile X Primary Ovarian Insufficiency

2 Apr 2012

Abstract excerpt

FMR1 premutation (PM) alleles have 55-200 CGG·CCG-repeats in their 5' UTR. PM carriers are at risk of fragile X-associated tremor and ataxia syndrome (FXTAS). Females are also at risk for FX primary ovarian insufficiency (FXPOI). PM pathology is generally attributed to deleterious properties of transcripts with long CGG-tracts. For FXPOI, hormone changes suggest a reduced residual follicle pool. Whether this is...

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PMID: 22470123
DOI: 10.1369/0022155412441002

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