Results 161 to 170 of about 6,819 (177)
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Unmasking of a Heterozygous SLC12A3 Mutation
Journal of the American Society of NephrologyRajeev Rohatgi, Chang Xu
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Novel Mutations of the SLC12A3 Gene in Patients With Gitelman Syndrome
Scandinavian Journal of Clinical and Laboratory Investigation, 2021Shaogang Ma
exaly
A variant reclassification of SLC12A3 of Gitelman syndrome
Clinica Chimica ActaC. Law, T.K. Ling, C. Lam
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A triple SLC12A3 heterozygous mutations in Gitelman syndrome with renal calculi.
HippokratiaGitelman syndrome (GS) is a rare autosomal recessive salt-losing tubulopathy. Mutations in the SLC12A3 gene encoding the renal thiazide-sensitive Na/Cl cotransporter in the distal renal tubule, cause GS. Identifying biallelic inactivating mutations in the SLC12A3 gene is the most common finding in GS, while the detection of renal calculi is relatively ...
Y, Jiang, L, Mou, X, Li
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Genetic and Biological Effects of Sodium-Chloride Cotransporter (SLC12A3) in Diabetic Nephropathy
American Journal of Nephrology, 2014Kerstin Brismar +2 more
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A Novel Compound Heterozygous Mutation of SLC12A3 Gene in a Chinese Pedigree With Gitelman Syndrome
Endocrine, 2020Yu Ding
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