Journal article icon

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...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1093/hmg/9.20.2937

Authors


Devuyst, O More by this author
Courtoy, PJ More by this author
Expand authors...
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

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP