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新发现!CACNA1S 基因错义变体致低钾性周期性麻痹的研究突破
研究针对 14 岁低钾性周期性麻痹患者,发现 CACNA1S 基因新变体,且药物治疗有效,意义重大。 在医学领域,有一种疾病总是 “偷袭” 患者,让他们陷入困扰,这就是低钾性周期性麻痹(Hypokalemic Periodic Paralysis,HOKPP)。HOKPP 是一种会让患者反复出现肌肉无力 ...
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