Article
Another functional frame-shift polymorphism of DEFB126 (rs11467497) associated with male infertility.
Journal of cellular and molecular medicine - 1 May 2015
Duan Shiwei, Shi Changgeng, Chen Guowu, Zheng Ju-fen, Wu Bin, Diao Hua, Ji Lindan, Gu Yihua, Xin Aijie, Wu Yancheng, Zhou Weijin, Miao Maohua, Xu Limin, Li Zheng, Yuan Yao, Wang Peng, Shi Huijuan
Abstract excerpt
DEFB126 rs140685149 mutation was shown to cause sperm dysfunction and subfertility. Indel rs11467497 is another 4-nucleotide frame-shift mutation (151bp upstream of rs140685149) that leads to the premature termination of translation and the expression of peptide truncated at the carboxyl terminus. In the present study, we performed a comprehensive association study to check the contribution of rs140685149 and...
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