Associated Papers
A missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome.
Law CY et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Cryo-EM structure of the human sodium-chloride cotransporter NCC.
Nan J et al.
Science Advances, 2022
36351028 (PubMed )
Supplement: sciadv.add7176_sm.pdf
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
Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome.
Takeuchi Y et al.
Journal of the American Society of Nephrology : Jasn, 2015
Gitelman's syndrome: towards genotype-phenotype correlations?
Riveira-Munoz E et al.
Pediatric Nephrology (berlin, Germany), 2007
Novel NCCT gene mutations as a cause of Gitelman's syndrome and a systematic review of mutant and polymorphic NCCT alleles.
Reissinger A et al.
Kidney & Blood Pressure Research, 2002
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