- 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 ...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1006/geno.1995.9960
-
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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
- Language:
- English
- Keywords:
- Copyright date:
- 1995
Journal article
Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis).
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