%0 Journal Article
%A García Castaño, Alejandro
%A Pérez de Nanclares, Gustavo
%A Madariaga, Leire
%A Aguirre, Mireia
%A Madrid, Álvaro
%A Chocrón, Sara
%A Nadal, Inmaculada
%A Navarro, Mercedes
%A Lucas, Elena
%A Fijo, Julia
%A Espino, Mar
%A Espitaletta, Zilac
%A García Nieto, Víctor
%A Barajas de Frutos, David
%A Loza, Reyner
%A Pintos, Guillem
%A Castaño, Luis
%A Ariceta, Gema
%T Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome
%D 2017
%U http://hdl.handle.net/10668/2629
%X 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 the largest series described. By comparing with other published populations, and considering that 80% of our patients presented the p.Ala204Thr Spanish founder mutation presumably associated with a common phenotype, we aimed to test the hypothesis that allelic differences could explain the wide phenotypic variability observed in patients with type III BS.
%K Alcalosis
%K Alelos
%K Síndrome de bartter
%K Canales de cloruro
%K Deshidratación
%K Exones
%K Genotipo
%K Humanos
%K Hipercalciuria
%K Hipopotasemia
%K Intrones
%K Nefrocalcinosis
%K Polidipsia
%K Reacción en cadena de la polimerasa
%K Remisión y consulta
%K Eliminación de secuencia
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