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Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.

24 de mayo de 2017
CLCNKB gen; Algoritmo para diagnóstico de Bartter III; Casos en España. Alta prevalenica de la mutación p.Ala204Thr

Different mutations cause type III Bartter syndrome in Spain. The high prevalence of the p.Ala204Thr in Spanish families thus justifies an initial screen for this mutation. However, should it not be detected further investigation of the CLCNKB gene is warranted in clinically diagnosed families.