Two Novel Mutations of Thiazide-Sensitive Na-Cl Cotransporter (TSC) Gene in Two Sporadic Japanese Patients with Gitelman Syndrome.-Reference-Cited by-同舟云学术

Two Novel Mutations of Thiazide-Sensitive Na-Cl Cotransporter (TSC) Gene in Two Sporadic Japanese Patients with Gitelman Syndrome.

Published:2002 Issue:1 Volume:49 Page:91-96
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

TAJIMA TOSHIHIRO¹,KOBAYASHI YUICHI²,ABE SHUJI¹,TAKAHASHI MICHIKO³,KONNO MUTSUKO³,NAKAE JUN¹,OKUHARA KOUJI¹,SATOH KOUHEI¹,ISHIKAWA TAKESHI⁴,IMAI TOSHIO³,FUJIEDA KENJI¹

Affiliation:

1. Department of Pediatrics, Hokkaido University School of Medicine

2. Department of Pediatrics, Senmaya Hospital

3. Department of Pediatrics, Sapporo Kousei Hospital

4. Department of Pediatrics, Iwate Medical College

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

http://www.jstage.jst.go.jp/article/endocrj/49/1/49_1_91/_pdf

Reference17 articles.

1. Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes

2. The Molecular Basis of Hypokalaemic Alkalosis: Bartter’s and Gitelman’s Syndromes

3. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis

4. Concomitant occurrence of Gitelman and Bartter syndromes in the same family?

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1. Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome;BMC Pediatrics;2019-04-18

2. A case of Gitelman syndrome: our experience with a patient treated in clinical practice on a local island;Journal of Rural Medicine;2019

3. Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort;American Journal of Nephrology;2016

4. Thiazide-sensitive Na+-Cl- cotransporter: genetic polymorphisms and human diseases;Acta Biochimica et Biophysica Sinica;2015-04-04

5. A pedigree analysis of two homozygous mutant Gitelman syndrome cases;Endocrine Journal;2015