Browsing Artículos by Author "Nadal, Inmaculada"

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

      García Castaño, Alejandro; Pérez de Nanclares, Gustavo; Madariaga Domínguez, Leire ORCID; Aguirre, Mireia; Madrid, Álvaro; Nadal, Inmaculada; Navarro, Mercedes; Lucas, Elena; Fijo, Julia; Espino, Mar; Espitaletta, Zilac; Castaño González, Luis Antonio ORCID; Ariceta, Gema; RenalTube Group (Public Library of Science, 2013-09-18)
      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 ...
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      Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome 

      Blanco, Francisco J.; García Castaño, Alejandro; Pérez de Nanclares, Gustavo; Madariaga Domínguez, Leire ORCID; 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 González, Luis Antonio ORCID; RenalTube Group; Ariceta, Gema (Public Library Science, 2017-03-13)
      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 ...