Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome
Author:
Publisher
Wiley
Subject
Nephrology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1440-1797.2008.01042.x/fullpdf
Reference34 articles.
1. Genetic variants of thiazide-sensitive nacl-cotransporter in Gitelman's syndrome and primary hypertension;Melander;Hypertension,2000
2. A high prevalence of Gitelman's syndrome mutations in Japanese;Tago;Hypertens. Res.,2004
3. Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life;Cruz;Kidney Int.,2001
4. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter;Simon;Nat. Genet.,1996
5. Expression of the thiazidesensitive Na-Cl cotransporter in rat and human kidney;Obermuller;Am. J. Physiol.,1995
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2. Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder;Endocrine Connections;2022-01-01
3. Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome;npj Genomic Medicine;2021-08-13
4. Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome;Frontiers in Pediatrics;2021-04-29
5. Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review;Case Reports in Medicine;2020-10-24
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