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Endocochlear potential depends on Cl− channels: mechanism underlying deafness in Bartter syndrome IV
Autor:
Thomas J. Jentsch, Nicola Strenzke, Hannes Maier, Adrian Muenscher, Corina E. Andreescu, Gesa Rickheit, Chris I. De Zeeuw, Anselm A. Zdebik
Publikováno v:
The EMBO journal, 27(21): 2809-2942
Human Bartter syndrome IV is an autosomal recessive disorder characterized by congenital deafness and severe renal salt and fluid loss. It is caused by mutations in BSND, which encodes barttin, a beta-subunit of ClC-Ka and ClC-Kb chloride channels. I