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病例报告:一种新的CACNA1S突变与低血压周期性有关

Evgenii P Nuzhnyi1, Alina S Arestova1, Alexey V Rossokhin1

  • 1Research Center of Neurology, Moscow, Russia.

Frontiers in neurology
|October 16, 2023
PubMed
概括

低血压周期性 (HypoKPP) 是一种罕见的遗传疾病. 发现了一种新的CACNA1S突变 (p.R900M),影响通道功能,并可能导致HypoKPP.

关键词:
这就是CACNA1S.这是一个HypoKPPPP.案例报告案例报告低血压的周期性.分子建模分子建模突变是一种突变.

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