Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm

The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic analysis of the CLCNKB gene, which encodes for the chloride channel protein ClC-Kb, in a cohort of 26 affected patients from 23 fa...

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Detalhes bibliográficos
Main Authors: García Castaño, Alejandro, Pérez de Nanclares, Gustavo, Madariaga, Leire, Aguirre, Mireia, Madrid, Alvaro, Nadal, Inmaculada, Navarro, Mercedes, Lucas, Elena, Fijo, Julia, Espino, Mar, Espitaletta, Zilac, Castaño, Luis, Ariceta, Gema
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3776854/
https://ncbi.nlm.nih.gov/pubmed/24058621
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0074673
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