Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.

Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of...

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Main Authors: Alejandro García Castaño, Gustavo Pérez de Nanclares, Leire Madariaga, Mireia Aguirre, Álvaro Madrid, Sara Chocrón, Inmaculada Nadal, Mercedes Navarro, Elena Lucas, Julia Fijo, Mar Espino, Zilac Espitaletta, Víctor García Nieto, David Barajas de Frutos, Reyner Loza, Guillem Pintos, Luis Castaño, RenalTube Group, Gema Ariceta
格式: Artigo
語言:Inglês
出版: Public Library of Science (PLoS) 2017-01-01
叢編:PLoS ONE
在線閱讀:http://europepmc.org/articles/PMC5348002?pdf=render
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