Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

(2017) Anne Blanchard et al.   KIDNEY INTERNATIONAL

Hepatocyte Nuclear Factor 1 -Associated Kidney Disease: More than Renal Cysts and Diabetes

(2015) J. C. Verhave et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman’s syndrome patients

(2014) Beatriz Tavira et al.   JOURNAL OF HUMAN GENETICS

Digenic inheritance in medical genetics

(2013) Alejandro A Schäffer   JOURNAL OF MEDICAL GENETICS

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

(2011) Bob Glaudemans et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Spectrum of Mutations in Gitelman Syndrome

(2011) R. Vargas-Poussou et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome

(2009) LING QIN et al.   NEPHROLOGY