Novel SLC12A3 Mutations in Chinese Patients with Gitelman’s Syndrome
Author:
Publisher
S. Karger AG
Subject
Physiology (medical),Nephrology,General Medicine,Physiology
Reference21 articles.
1. Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome
2. Gitelman's syndrome (Bartter's variant) maps to the thiazide-sensitive cotransporter gene locus on chromosome 16q13 in a large kindred.
3. Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter
4. Novel Mutations in Thiazide-Sensitive Na-Cl Cotransporter Gene of Patients with Gitelman's Syndrome
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1. Familial Hyperkalemic Hypertension (FHHt);Endocrinology;2023
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3. Genetic analysis of SLC12A3 gene and diagnostic process in patients with Gitelman syndrome;Clinical Nephrology;2021-09-01
4. Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome;npj Genomic Medicine;2021-08-13
5. A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome with diabetes and the choices of the appropriate hypoglycemic drugs: a case report;BMC Medical Genomics;2021-08-04
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