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Updated: Jan 12, 2026

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加尔多斯通道病变:对KCNN4突变及其临床影响的新见解

Prashant Warang1, Pradnya Dehadrai1, Neha Samanpalliwar1

  • 1Department of Haematogenetics, ICMR-National Institute of Immunohematology, 13th Floor, NMS Building, King Edward Memorial (KEM) Hospital Campus, Parel, Mumbai, India.

Journal of human genetics
|October 31, 2025
PubMed
概括

加尔多斯通道病,一种罕见的溶血性贫血,是由KCNN4基因突变引起的. 这项研究在三名印度患者中发现了新的突变,突出显示了细胞内和氧化应激的升高作为关键疾病机制.

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