A mosaic mutation in the CLCNKB gene causing Bartter syndrome: A case report
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 cells t...
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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
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Frontiers Media S.A.
2023-04-01
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| Serie: | Frontiers in Pediatrics |
| Soggetti: | |
| Accesso online: | https://www.frontiersin.org/articles/10.3389/fped.2023.1034923/full |
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