Published articles

Published articles 1 records found  Search took 0.01 seconds. 
11 p, 788.9 KB Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome / García Castaño, Alejandro (Instituto de Investigación Sanitaria BioCruces Bizkaia) ; Pérez de Nanclares, Gustavo (Instituto de Investigación Sanitaria BioCruces Bizkaia) ; Madariaga, Leire (Universidad del País Vasco. Departamento de Pediatría) ; Aguirre, Mireia (Hospital Universitario Cruces, Bizkaia) ; Madrid, Álvaro (Hospital Universitari Vall d'Hebron) ; Chocrón, Sara (Hospital Universitari Vall d'Hebron) ; Nadal, Inmaculada (Hospital Virgen del Camino, Pamplona) ; Navarro, Mercedes (Hospital Universitario La Paz, Madrid) ; Lucas, Elena (Hospital de Manises, Valencia) ; Fijo, Julia (Hospital Virgen del Rocio, Sevilla) ; Espino, Mar (Hospital Universitario Fundación Alcorcón) ; Espitaletta, Zilac (Hospital Universitario San Ignacio, Bogotá) ; García Nieto, Víctor (Hospital Universitario Nuestra Señora de Candelaria, Tenerife) ; Barajas de Frutos, David (Hospital Virgen de las Nieves, Granada) ; Loza, Reyner (Hospital Cayetano Heredia, Lima) ; Pintos, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Castaño, Luis (Instituto de Investigación Sanitaria BioCruces Bizkaia) ; Grupo RenalTube ; Ariceta, Gema (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
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. [...]
2017 - 10.1371/journal.pone.0173581
PloS one, Vol. 12 Núm. 3 (2017) , p. 1-11  

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