Article
Novel NR5A1 missense mutation in premature ovarian failure: detection in han chinese indicates causation in different ethnic groups.
PloS one - 1 Jan 2013
Jiao Xue, Qin Yingying, Li Guangyu, Zhao Shidou, You Li, Ma Jinlong, Simpson Joe Leigh, Chen Zi-Jiang
Abstract excerpt
BACKGROUND: The etiology of most premature ovarian failure (POF) cases is usually elusive. Although genetic causes clearly exist and a likely susceptible region of 8q22.3 has been discovered, no predominant explanation exists for POF. More recently, evidences have indicated that mutations in NR5A1 gene could be causative for POF. We therefore screened for mutations in the NR5A1 gene in a large cohort of Chinese...
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