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双生殖基因BRCA1 框架转移突变与孤立的卵巢储备减少相关

Anne Helbling-Leclerc1, Marie Falampin2,3, Abdelkader Heddar4

  • 1Genome Integrity and Cancer, CNRS UMR9019, Université Paris-Saclay, Gustave Roussy, 94805 Villejuif, France.

International journal of molecular sciences
|November 27, 2024
PubMed
概括

在BRCA1的基因突变导致孤立的卵巢储备减少 (DOR) 在一个年轻的患者. 这项研究揭示了BRCA1的存在.

关键词:
这是一种BRCA1突变.修复DNA的修复DNA的修复芬科尼贫血症是什么意思减少了卵巢储备.遗传咨询 遗传咨询 遗传咨询介质变化 (meiosis) 是一种变质的过程.原发性卵巢功能不充分症.

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