Mutations in TUBB8 cause a multiplicity of phenotypes in human oocytes and early embryos

BACKGROUND: TUBB8 is a primate-specific β-tubulin isotype whose expression is confined to oocytes and the early embryo. We previously found that mutations in TUBB8 caused oocyte maturation arrest. The objective was to describe newly discovered mutations in TUBB8 and to characterize the accompanying...

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Veröffentlicht in:J Med Genet
Hauptverfasser: Feng, Ruizhi, Yan, Zheng, Li, Bin, Yu, Min, Sang, Qing, Tian, Guoling, Xu, Yao, Chen, Biaobang, Qu, Ronggui, Sun, Zhaogui, Sun, Xiaoxi, Jin, Li, He, Lin, Kuang, Yanping, Cowan, Nicholas J., Wang, Lei
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2016
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5035199/
https://ncbi.nlm.nih.gov/pubmed/27273344
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-103891
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