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Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family

机译：血缘交配家庭中与卵母细胞成熟缺陷2相关的TUBB8中的罕见纯合突变。

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摘要

Pedigree chart of the proband’s family with OOMD2

机译：OOMD2的先证家庭谱系图

著录项

期刊名称 Journal of Ovarian Research
作者
Qiong Xing; Ruyi Wang; Beili Chen; Lin Li; Hong Pan; Tengyan Li; Xu Ma; Yunxia Cao; Binbin Wang;
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作者单位

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年(卷),期 2020(13),-1
年度 2020
页码 -1
总页数 7
原文格式 PDF
正文语种
中图分类生理学;
关键词
Oocyte maturation defect-2;

机译：卵母细胞成熟缺陷2;

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外文文献
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专利

1. Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family [J] . Qiong Xing, Ruyi Wang, Beili Chen, Journal of Ovarian Research . 2020,第1期

机译：在近距亮配合家庭中与卵母细胞成熟缺陷-2相关的稀有纯合突变
2. Human oocyte maturation arrest caused by a novel missense mutation in TUBB8 [J] . Jingjing Xiang, Wei Wang, Chunfeng Qian, Journal of International Medical Research . 2018,第9期

机译： TUBB8 中的新型错义突变导致人卵母细胞成熟停止
3. Human oocyte maturation arrest caused by a novel missense mutation in TUBB8 [J] . Jingjing Xiang, Wei Wang, Chunfeng Qian, Journal of International Medical Research . 2018,第9期

机译： TUBB8 中的新型错义突变导致人卵母细胞成熟停止
4. Intraovarian regulation of steroidogenesis in Rainbow Trout Oncorhynchus mykiss: Implications of the TGFβ superfamily members as regulators in the steroidogenic shift during oocyte maturation [D] . Cook, Matthew T. 2010

机译：虹鳟Onkihynchus mykiss中类固醇生成的卵巢内调节：TGFβ超家族成员作为卵母细胞成熟过程中类固醇生成转移的调节剂的意义
5. Novel homozygous heterozygous and hemizygous FRMD7 gene mutations segregatedin the same consanguineous family with congenital X-linked nystagmus [O] . Uppala Radhakrishna, Uppala Ratnamala, Samuel Deutsch, 2012

机译：分离的新的纯合杂合和半合FRMD7基因突变与先天性X连锁性眼球震颤的近亲家庭
6. Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family [O] . Qiong Xing, Ruyi Wang, Beili Chen, 2020

机译：在近距亮配合家庭中与卵母细胞成熟缺陷-2相关的稀有纯合突变

Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family

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