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Using a mouse model expressing only the PRL receptor short isoform mimicking premature ovarian failure, signaling pathways induced by PRL were analyzed in mouse ovaries. Sequencing of the coding portion of exons 10 and 11, specific to the long and short receptor isoform, respectively, did not revealed any mutation in 101 women with premature ovarian failure.
The study objective was to determine if mutations in mitochondrial DNA polymerase gamma (POLG) are associated with spontaneous 46,XX primary ovarian insufficiency (sPOI) using restriction fragment length polymorphism analysis of genomic DNA. Of 201 women with 46,XX sPOI analyzed, we found only one case (0.5%, 95% confidence interval 0-3%) of heterozygosity for a POLG mutation, suggesting that this...
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