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Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.

Abstract:

Mutations of the human CLCN5 gene, which encodes the CLC-5 Cl(-)/H(+) exchanger, lead to Dent's disease. Mutations result in functional defects that range from moderate reductions to complete loss of whole cell currents, although the severity of the functional defect rarely correlates with the severity of the disease. To further elucidate the basis of CLC-5 mutations causing Dent's disease, we examined the functional and cell biological consequences of seven previously reported missense mutan...

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Publication status:
Published

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Publisher copy:
10.1152/ajprenal.90526.2008

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Role:
Author
Journal:
American journal of physiology. Renal physiology
Volume:
296
Issue:
2
Pages:
F390-F397
Publication date:
2009-02-05
DOI:
EISSN:
1522-1466
ISSN:
1931-857X
URN:
uuid:e79ed929-a9fa-4852-a4dd-e56f7361d390
Source identifiers:
10321
Local pid:
pubs:10321

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