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Basonuclin 1 deficiency is a cause of primary ovarian insufficiency

14 Jul 2018

Abstract excerpt

Primary ovarian insufficiency (POI) leads to infertility and premature menopause in young women. The genetic etiology of this disorder remains unknown in most patients. Using whole exome sequencing of a large Chinese POI pedigree, we identified a heterozygous 5 bp deletion inducing a frameshift in BNC1, which is predicted to result in a non-sense-mediated decay or a truncated BNC1 protein. Sanger sequencing...

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PMID: 30010909
DOI: 10.1093/hmg/ddy261

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