Associated Papers
Genetic and Biological Effects of SLC12A3, a Sodium-Chloride Cotransporter, in Gitelman Syndrome and Diabetic Kidney Disease.
Li N et al.
Frontiers in Genetics, 2022
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.
Zacchia M et al.
Journal of Nephrology, 2021
Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.
Mori T et al.
Human Mutation, 2021
[Gitelman´s syndrome as common cause of hypokalemia and hypomagnesemia].
Ryšavá R et al.
Vnitrni Lekarstvi, 2016
Spectrum of mutations in Gitelman syndrome.
Vargas-Poussou R et al.
Journal of the American Society of Nephrology : Jasn, 2011
DNA analysis of renal electrolyte transporter genes among patients suffering from Bartter and Gitelman syndromes: summary of mutation screening.
Urbanová M et al.
Folia Biologica, 2011
Gitelman syndrome.
Roser M et al.
Hypertension (dallas, Tex. : 1979), 2009
19349556 (PubMed )
Supplement: 127993-online_supplement.pdf
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