Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome.

Daan H H M Viering,Marguerite Hureaux,Kornelia Neveling,Femke Latta,Michael Kwint,Anne Blanchard,Martin Konrad,René J M Bindels,Karl-Peter Schlingmann,Rosa Vargas-Poussou,Jeroen H F de Baaij

Journal of the American Society of Nephrology : JASN（2023）

引用 4|浏览16

暂无评分

摘要

Intronic pathogenic variants explain an important part of the missing heritability in Gitelman syndrome. Long-read sequencing should be considered in diagnostic workflows for Gitelman syndrome.

查看译文

关键词

Gitelman syndrome,NCC,Na reabsorption,epithelial sodium transport,genetic renal disease,tubulopathy

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要