Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/32465
Title: Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
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Issue Date: 2017
Citation: PLoS ONE.2017;(12)3:e0173581
Abstract: 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.
PMID: 28288174
URI: https://hdl.handle.net/20.500.12530/32465
Rights: openAccess
Appears in Collections:Fundaciones e Institutos de Investigación > IIS H. U. La Paz > Artículos
Hospitales > H. U. La Paz > Artículos

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