Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain-Reference-Cited by-同舟云学术

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain

Published:1998-09 Issue:3 Volume:54 Page:720-730
ISSN:0085-2538
Container-title:Kidney International
language:en
Short-container-title:Kidney International

Author:

Lemmink Henny H.,Knoers Nine V.A.M.,Károlyi Lothar,van Dijk Henk,Niaudet Patrick,Antignac Corinne,Guay-Woodford Lisa M.,Goodyer Paul R.,Carel Jean-Claude,Hermes Ad,Seyberth Hansjörg W.,Monnens Leo A.H.,van den Heuvel Lambert P.W.J.

Publisher

Elsevier BV

Subject

Nephrology

Reference34 articles.

1. A new familial disorder characterized by hypokalemia and hypomagnesemia;Gitelman;Trans Assoc Am Phys,1966

2. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome;Bartter;Am J Med,1962

3. Congenital hypokalemia with hypercalciuria in preterm infants: A hyperprostaglandinuric tubular syndrome different from Bartter syndrome;Seyberth;J Pediatr,1985

4. Genetic heterogeneity in tubular hypomagnesemia-hypokalemia (Gitelman's syndrome);Bettinelli;Kidney Int,1995

5. Linkage of Gitelman syndrome to the thiazide-sensitive sodium-chloride cotransporter gene with identification of mutations in Dutch families;Lemmink;Pediatr Nephrol,1996

Cited by 146 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A missense variant in SLC12A3 gene enhances aberrant splicing causing Gitelman syndrome;Clinica Chimica Acta;2025-01

2. Genotype–phenotype correlations in children with Gitelman syndrome;Clinical and Experimental Nephrology;2024-03-13

3. The first compound heterozygous mutations in SLC12A3 and PDX1 genes: a unique presentation of Gitelman syndrome with distinct insulin resistance and familial diabetes insights;Frontiers in Endocrinology;2024-01-25

4. Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome;Clinical Endocrinology;2022-12-28

5. Tophaceous gout in a young man with Gitelman syndrome: a case report with an overview;Clinical Rheumatology;2022-09-27