A pedigree analysis of two homozygous mutant Gitelman syndrome cases-Reference-Cited by-全球学者库

A pedigree analysis of two homozygous mutant Gitelman syndrome cases

Published:2015 Issue:1 Volume:62 Page:29-36
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Luo Jiewei¹,Yang Xiao²,Liang Jixing³,Li Weihua⁴

Affiliation:

1. Department of Traditional Chinese Medicine, Fujian Provincial Hospital, Fujian Medical University, Fuzhou 350001, China

2. Teaching and Research Office of Surgical Nursing, Department of Nursing, Fujian Health College, Fuzhou 350101, China

3. Department of Endocrine and Kidney, Fujian Provincial Hospital, Fuzhou 350001, China

4. Department of Surgical Oncology, Provincial Hospital, Fujian Medical University, Fuzhou 350001, China

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference25 articles.

1. 1. Gitelman HJ, Graham JB, Welt LG (1966) A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79: 221-235.

2. 2. Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, et al. (1996) Gitelman’s variant of Bartter’s syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12: 24-30.

3. 3. Knoers NV, Levtchenko EN (2008) Gitelman syndrome. Orphanet J Rare Dis 3: 22.

4. 4. Gamba G, Miyanoshita A, Lombardi M, Lytton J, Lee WS, et al. (1994) Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney. J Biol Chem 269: 17713-17722.

5. 5. De Jong JC, Van Der Vliet WA, Van Den Heuvel LP, Willems PH, Knoers NV, et al. (2002) Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman’s syndrome. J Am Soc Nephrol 13: 1442-1448.

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