Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome-Reference-Cited by-同舟云学术

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Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome

Published:2008-06-16 Issue:10 Volume:23 Page:3120-3125
ISSN:0931-0509
Container-title:Nephrology Dialysis Transplantation
language:en
Short-container-title:Nephrology Dialysis Transplantation

Author:

Riveira-Munoz E.,Devuyst O.,Belge H.,Jeck N.,Strompf L.,Vargas-Poussou R.,Jeunemaitre X.,Blanchard A.,Knoers N. V.,Konrad M.,Dahan K.

Publisher

Oxford University Press (OUP)

Subject

Transplantation,Nephrology

Link

http://academic.oup.com/ndt/article-pdf/23/10/3120/6902164/gfn229.pdf

Reference30 articles.

1. Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter

2. A High Prevalence of Gitelman's Syndrome Mutations in Japanese

3. A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies

4. Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter

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1. Detecting pathogenic deep intronic variants in Gitelman syndrome;American Journal of Medical Genetics Part A;2022-07-03

2. Inherited Disorders of Sodium and Potassium Handling;Pediatric Nephrology;2022

3. Functional assessment of somatic STK11 variants identified in primary human non-small cell lung cancers;Carcinogenesis;2021-11-19

4. Regulatory control of the Na–Cl co-transporter NCC and its therapeutic potential for hypertension;Acta Pharmaceutica Sinica B;2021-05

5. Inherited Disorders of Sodium and Potassium Handling;Pediatric Nephrology;2021

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