Functional Study of Novel Bartter's Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine

• Main Authors: Dalila Sahbani (Author), Bice Strumbo (Author), Silvana Tedeschi (Author), Elena Conte (Author), Giulia Maria Camerino (Author), Elisa Benetti (Author), Giovanni Montini (Author), Gabriella Aceto (Author), Giuseppe Procino (Author), Paola Imbrici (Author), Antonella Liantonio (Author)
• פורמט: ספר
• יצא לאור: Frontiers Media S.A., 2020-03-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Type III and IV Bartter syndromes (BS) are rare kidney tubulopathies caused by loss-of-function mutations in the CLCNKB and BSND genes coding respectively for the ClC-Kb chloride channels and accessory subunit barttin. ClC-K channels are expressed in the Henle's loop, distal convoluted tubule,...