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在一个大型的中国吉特曼综合征队列中,变异的谱系

Lijun Mou1, Mengyue Tang2, Lina Zhu1

  • 1Department of Nephrology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Clinical genetics
|September 13, 2023
PubMed
概括

在中国的吉特曼综合征 (GS) 患者中,SLC12A3基因的大规模重组 (LRG) 是常见的. 结合大规模并行测序 (MPS) 和多重结合依赖探头放大 (MLPA),提高了GS的遗传测试准确性.

关键词:
吉特曼综合征 (Gitelman综合征) 是一种在 SLC12A3 中.大规模的重新安排.大规模并行测序.多重结合依赖的探头放大.

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