A novel SCNN1A mutation
收藏NIAID Data Ecosystem2026-03-13 收录
下载链接：
https://www.ncbi.nlm.nih.gov/bioproject/PRJNA836417
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资源简介：
Liddle Symsyndrome is an autosomal dominant disorder characterized clinically by low-renin hypertension, renal potassium loss and metabolic alkalosis. In the present study, a novel pathogenic mutation c.1130T>G of the SCNN1A gene was detected and the patients were diagnosed with Liddle syndrome.
创建时间：
2022-05-09
