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.
- 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...
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- Publication status:
- Published
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- Publisher copy:
- 10.1093/hmg/9.20.2937
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Bibliographic Details
- 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
Item Description
- Language:
- English
- Keywords:
Terms of use
- Copyright date:
- 2000
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