Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6181151 | Fertility and Sterility | 2015 | 8 Pages |
Abstract
The novel nonsense mutation we detected-EMX2, p.E142X- resulted in a dominant negative effect. The functional data were exemplified in HEK293FT cells. This reinforced the likelihood that EMX2 contributed to the pathophysiology of IMF. Although it is uncommon (0.19%), EMX2 is the first gene identified that if perturbed may cause isolated IMF.
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Authors
Shan M.D., Ph.D., Xuan M.D., Yingying M.D., Ph.D., Wen M.S., Tao M.S., Jinlong M.D., Ph.D., Joe Leigh M.D., Ph.D., Zi-Jiang M.D., Ph.D.,