CSB-PGBD3 Mutations Cause Premature Ovarian Failure

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Through whole exome sequencing in a non-consanguineous family having four affected members with POF and Sanger sequencing in 432 sporadic cases, we identified three novel mutations in CSB-PGBD3. Our functional studies implicate CSB-PGBD3, a gene which has previously shown association with DNA repair and Cockayne syndrome has a potential role in maintenance of ovarian function. This study also provides evidence for a pivotal role of DNA repair in POF.

Vyšlo v časopise: CSB-PGBD3 Mutations Cause Premature Ovarian Failure. PLoS Genet 11(7): e32767. doi:10.1371/journal.pgen.1005419
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005419

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