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

INTRODUCTION: 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 pa...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: García Castaño, Alejandro, Pérez de Nanclares, Gustavo, Madariaga, Leire, Aguirre, Mireia, Madrid, Álvaro, Chocrón, Sara, Nadal, Inmaculada, Navarro, Mercedes, Lucas, Elena, Fijo, Julia, Espino, Mar, Espitaletta, Zilac, García Nieto, Víctor, Barajas de Frutos, David, Loza, Reyner, Pintos, Guillem, Castaño, Luis, Ariceta, Gema
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5348002/
https://ncbi.nlm.nih.gov/pubmed/28288174
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0173581
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