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

• প্রধান লেখক: Lan Zhou (লেখক), Xiaohui Chen (লেখক), Jiaojiao Xiong (লেখক), Ling Lei (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Frontiers Media S.A., 2023-04-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...