Novel mutations of the CLCN5 gene including a complex allele and A 5′ UTR mutation in Dent disease 1-Reference-Cited by-同舟云学术

Novel mutations of the CLCN5 gene including a complex allele and A 5′ UTR mutation in Dent disease 1

Published:2009-10 Issue:4 Volume:76 Page:413-416
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Tosetto E,Ceol M,Mezzabotta F,Ammenti A,Peruzzi L,Caruso MR,Barbano G,Vezzoli G,Colussi G,Vergine G,Giordano M,Glorioso N,Degortes S,Soldati L,Sayer J,D'Angelo A,Anglani F

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01212.x/fullpdf

Reference9 articles.

1. Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders;Lloyd;Hum Mol Genet,1997

2. Phenotypic and genetic heterogeneity in Dent's disease-the results of an Italian collaborative study;Tosetto;Nephrol Dial Transplant,2006

3. Modeling study of human renal chloride channel (hCLC-5) mutations suggest a structural functional relationship;Wu;Kidney Int,2003

4. SIFT: predicting amino acid changes that affect protein function;Ng;Nucleic Acids Res,2003

5. Human non-synonymous SNPs: server and survey;Ramensky;Nucleic Acids Res,2002

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4. Functional analysis of suspected splicing variants in CLCN5 gene in Dent disease 1;Clinical and Experimental Nephrology;2020-07

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