Zilac Espitaletta
Overview
Explore the profile of Zilac Espitaletta including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
2
Citations
24
Followers
0
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Recent Articles
1.
Garcia Castano A, de Nanclares G, Madariaga L, Aguirre M, Madrid A, Chocron S, et al.
PLoS One
. 2017 Mar;
12(3):e0173581.
PMID: 28288174
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...
2.
Garcia Castano A, de Nanclares G, Madariaga L, Aguirre M, Madrid A, Nadal I, et al.
PLoS One
. 2013 Sep;
8(9):e74673.
PMID: 24058621
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...