Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.

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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Alejandro García Castaño, Gustavo Pérez de Nanclares, Leire Madariaga, Mireia Aguirre, Álvaro Madrid, Sara Chocrón, Inmaculada Nadal, Mercedes Navarro, Elena Lucas, Julia Fijo, Mar Espino, Zilac Espitaletta, Víctor García Nieto, David Barajas de Frutos, Reyner Loza, Guillem Pintos, Luis Castaño, RenalTube Group, Gema Ariceta
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Public Library of Science (PLoS) 2017-01-01
श्रृंखला:PLoS ONE
ऑनलाइन पहुंच:http://europepmc.org/articles/PMC5348002?pdf=render
टैग : टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!

समान संसाधन