- Abstract:
-
Nephrolithiasis (kidney stones) affects 5-10% of adults and is most commonly associated with hypercalciuria, which may be due to monogenic renal tubular disorders. One such hypercalciuric disorder is Dent's disease, which is characterized by renal proximal tubular defects that include low molecular weight proteinuria, aminoaciduria and glycosuria, together with rickets in some patients. Dent's disease is due to inactivating mutations of the renal-specific voltage-gated chloride channel, CLC-5...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1093/hmg/9.20.2937
-
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- Journal:
- Human molecular genetics
- Volume:
- 9
- Issue:
- 20
- Pages:
- 2937-2945
- Publication date:
- 2000-12-05
- DOI:
- EISSN:
-
1460-2083
- ISSN:
-
0964-6906
- URN:
-
uuid:490934b2-c7ce-4d4e-9f27-2fdaf6db5a75
- Source identifiers:
-
19865
- Local pid:
- pubs:19865
- Language:
- English
- Keywords:
- Copyright date:
- 2000
Journal article
Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis.
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