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Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.

Abstract:

BACKGROUND: The annual urinary screening of Japanese children above three years of age has identified a progressive renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrocalcinosis, and this represents a variant of Dent's disease. Hitherto, 12 mutations of the X-linked renal specific chloride channel, CLCN5, have been reported in the Dent'sJapan variant. To further identify such CLCN5 mutations and to define the structure-function relationships of ...

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Publication status:
Published

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Journal:
Kidney international
Volume:
54
Issue:
6
Pages:
1850-1856
Publication date:
1998-12-01
DOI:
EISSN:
1523-1755
ISSN:
0085-2538
Source identifiers:
20315
Language:
English
Keywords:
Pubs id:
pubs:20315
UUID:
uuid:4583e597-9bae-4714-886d-65c278faa545
Local pid:
pubs:20315
Deposit date:
2012-12-19

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