A mosaic mutation in the CLCNKB gene causing Bartter syndrome: A case report

• Päätekijät: Lan Zhou (Tekijä), Xiaohui Chen (Tekijä), Jiaojiao Xiong (Tekijä), Ling Lei (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Frontiers Media S.A., 2023-04-01T00:00:00Z.
• Aiheet: article
• Linkit: Connect to this object online.

BackgroundType III Bartter syndrome (BS) is an autosomal recessive disease caused by mutations in the CLCNKB (chloride voltage-gated channel Kb) gene that encodes CLC-Kb. CLC-Kb is mainly located in the thick ascending limb of Henle's loop and regulates chloride efflux from tubular epithelial ce...