在12型神突变中TTC21B基因突变的分子机制以及通过PGT进行的遗传预防

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Kai Deng1,2,3,4, Jingjing Li1, Xitao Hu2,3,4

  • 1Department of Cell Biology, School of Basic Medicine, Hebei Medical University, Shijiazhuang, China.

Frontiers in genetics
|December 11, 2025
PubMed
概括

第12型神解剖症 (NPHP12) 是由TTC21B突变引起的,突变破坏了细胞功能和毛. 植入前遗传检测 (PGT) 成功防止了家庭中的疾病传播.

关键词:
植入前遗传检测 (PGT) 是指植入前的遗传检测.这就是TTC21B基因.功能验证的功能验证第12类神经瘤突发症不确定意义的变体 (VUS)整体外基因组测序的测序

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