Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease-Reference-Cited by-同舟云学术

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Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease

Published:2003-04-01 Issue:4 Volume:18 Page:717-723
ISSN:0931-0509
Container-title:Nephrology Dialysis Transplantation
language:en
Short-container-title:Nephrology Dialysis Transplantation

Author:

Carballo-Trujillo I.,Garcia-Nieto V.,Moya-Angeler F. J.,Anton-Gamero M.,Loris C.,Mendez-Alvarez S.,Claverie-Martin F.

Publisher

Oxford University Press (OUP)

Subject

Transplantation,Nephrology

Link

http://academic.oup.com/ndt/article-pdf/18/4/717/5197618/180717.pdf

Reference20 articles.

1. A common molecular basis for three inherited kidney stone diseases

2. Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis

3. Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).

4. Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.

5. Cloning and Characterization of CLCN5, the Human Kidney Chloride Channel Gene Implicated in Dent Disease (an X-Linked Hereditary Nephrolithiasis)

Cited by 32 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease;Biomedicines;2023-11-17

2. Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718* (c.2152C > T) in the CLCN5 gene;Stem Cell Research;2021-03

3. A Novel CLCN5 Splice Site Mutation in a Boy with Incomplete Phenotype of Dent Disease;Journal of Pediatric Genetics;2019-06-04

4. Genetics of Refractory Rickets: Identification of Novel PHEX Mutations in Indian Patients and a Literature Update;Journal of Pediatric Genetics;2018-01-28

5. Proteinuria in Dent disease: a review of the literature;Pediatric Nephrology;2016-10-18

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