Article
Mutations in TUBB8 and Human Oocyte Meiotic Arrest.
The New England journal of medicine - 21 Jan 2016
Feng Ruizhi, Sang Qing, Kuang Yanping, Sun Xiaoxi, Yan Zheng, Zhang Shaozhen, Shi Juanzi, Tian Guoling, Luchniak Anna, Fukuda Yusuke, Li Bin, Yu Min, Chen Junling, Xu Yao, Guo Luo, Qu Ronggui, Wang Xueqian, Sun Zhaogui, Liu Miao, Shi Huijuan, Wang Hongyan, Feng Yi, Shao Ruijin, Chai Renjie, Li Qiaoli, Xing Qinghe, Zhang Rui, Nogales Eva, Jin Li, He Lin, Gupta Mohan L, Cowan Nicholas J, Wang Lei
Abstract excerpt
Background Human reproduction depends on the fusion of a mature oocyte with a sperm cell to form a fertilized egg. The genetic events that lead to the arrest of human oocyte maturation are unknown. Methods We sequenced the exomes of five members of a four-generation family, three of whom had infertility due to oocyte meiosis I arrest. We performed Sanger sequencing of a candidate gene, TUBB8, in DNA samples from...
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