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Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis).

Abstract:

Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and eventual renal failure. We have previously used positional cloning to identify the 3' part of a novel kidney-specific gene (initially termed hClC-K2, but now referred to as CLCN5), which is deleted in patients from one pedigree segregating Dent disease. Mutations that disrupt this gene have been identified in other patients ...

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Publication status:
Published

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Publisher copy:
10.1006/geno.1995.9960

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Role:
Author
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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Role:
Author
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Journal:
Genomics
Volume:
29
Issue:
3
Pages:
598-606
Publication date:
1995-10-05
DOI:
EISSN:
1089-8646
ISSN:
0888-7543
URN:
uuid:a29d5b71-45ca-4ec6-b87d-b1564a02d6a0
Source identifiers:
31358
Local pid:
pubs:31358

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