Article ID Journal Published Year Pages File Type
6181151 Fertility and Sterility 2015 8 Pages PDF
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.
Related Topics
Health Sciences Medicine and Dentistry Obstetrics, Gynecology and Women's Health
Authors
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