A Novel Splicing Mutation in SLC12A3 Associated With Gitelman Syndrome and Idiopathic Intracranial Hypertension
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference37 articles.
1. Clinical presentations of genotypically defined patients with hypokalemic salt-losing tubulopathies;Peters;Am J Med,2002
2. Genetic forms of renal potassium and magnesium wasting;Warnock;Am J Med,2002
3. Gitelman syndrome comes of age;Monnens;Nephrol Dial Transplant,1998
4. Bartter and related syndromes: The puzzle is almost solved;Rodriguez-Soriano;Pediatr Nephrol,1998
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1. Bartter-, Gitelman-, and Related Syndromes;Pediatric Kidney Disease;2023
2. R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome;Frontiers of Medicine;2022-11-12
3. Inherited Disorders of Sodium and Potassium Handling;Pediatric Nephrology;2022
4. Diagnosis of idiopathic intracranial hypertension - the importance of excluding secondary causes: A systematic review;Cephalalgia;2021-11-25
5. Genes causing congenital hydrocephalus: Their chromosomal characteristics of telomere proximity and DNA compositions;Experimental Neurology;2021-01
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