Two brothers with identical variants of the CLCN5 gene—one developing Dent’s disease-Reference-Cited by-同舟云学术

Two brothers with identical variants of the CLCN5 gene—one developing Dent’s disease

Published:2017-10-16 Issue:4 Volume:11 Page:459-461
ISSN:2048-8505
Container-title:Clinical Kidney Journal
language:en
Short-container-title:

Author:

Fischer Anne Sophie¹,Marcussen Niels²,Rasmussen Maria³,Randers Else⁴

Affiliation:

1. Department of Internal Medicine, Regionshospitalet Viborg, Viborg, Denmark

2. Department of Pathology, Odense Universitetshospital, Odense, Denmark

3. Department of Clinical Genetics–Department of Clinical Medicine, Aarhus University Hospital, Aarhus N, Denmark

4. Department of Internal Medicine, Viborg Regional Hospital, Viborg, Denmark

Publisher

Oxford University Press (OUP)

Subject

Transplantation,Nephrology

Link

http://academic.oup.com/ckj/article-pdf/11/4/459/25363369/sfx123.pdf

Reference21 articles.

1. Hypercalcuric rickets associated with renal tubular damage;Dent;Arch Dis Child,1964

2. Tubular proteinuria defined by a study of dent's (CLCN5 mutation) and other tubular diseases;Norden;Kidney Int,2000

3. Dent's disease;Devuyst;Orphanet J Rare Dis,2010

4. Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis);Fisher;Hum Mol Genet,1994

5. ClC-5, the chloride channel mutated in dent's disease, colocalizes with the proton pump in endocytotically active kidney cells;Gunther;Proc Natl Acad Sci USA,1998

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1. Dent disease manifesting as nephrotic syndrome;Intractable & Rare Diseases Research;2023-02-28

2. A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report;Frontiers in Pediatrics;2022-11-14

3. Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon;Human Genetics;2020-08-29