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Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease.

Abstract:

Dent's disease, which is a renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrolithiasis, is associated with inactivating mutations of the X-linked chloride channel, CLC-5. However, the manner in which a functional loss of CLC-5 leads to such diverse renal abnormalities remains to be defined. In order to elucidate this, we performed studies to determine the segmental expression of CLC-5 in the human kidney and to define its intracellular distribu...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/8.2.247

Authors


Devuyst, O More by this author
Christie, PT More by this author
Courtoy, PJ More by this author
Beauwens, R More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Publisher:
Oxford University Press
Journal:
Human molecular genetics
Volume:
8
Issue:
2
Pages:
247-257
Publication date:
1999-02-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:8a728057-d84a-404d-811e-82b955ea918f
Source identifiers:
1754
Local pid:
pubs:1754

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