Article
Novel mutations and structural deletions in TUBB8: expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development.
Human reproduction (Oxford, England) - 1 Feb 2017
Chen Biaobang, Li Bin, Li Da, Yan Zheng, Mao Xiaoyan, Xu Yao, Mu Jian, Li Qiaoli, Jin Li, He Lin, Kuang Yanping, Sang Qing, Wang Lei
Abstract excerpt
STUDY QUESTION: Are there any new type of mutations and novel phenotypes in patients with arrest in oocyte maturation, fertilization or early embryonic development having tubulin beta eight class VIII (TUBB8) mutations? SUMMARY ANSWER: We identified new types of mutations in TUBB8 associated with maturation, fertilization and developmental arrest. WHAT IS KNOWN ALREADY: We previously found heterozygous mutations...
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