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Targeted mutational screening of the inhibin-binding domain of betaglycan (exons 11 and 12) demonstrated an increased occurrence of the exon 12 194969T-->C variant in POF patients (27/54; 50%) compared to controls (8/41; 19.5%; P=.002); however, no gene variations were identified in exon 11.

Citation

Ashwini L Chand, David M Robertson, Andrew N Shelling, Craig A Harrison. Mutational analysis of betaglycan/TGF-betaRIII in premature ovarian failure. Fertility and sterility. 2007 Jan;87(1):210-2

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PMID: 17084394

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