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Journal article

Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.

Abstract:

Mutations of the renal-specific chloride channel (CLCN5) gene, which is located on chromosome Xp11.22, are associated with hypercalciuric nephrolithiasis (kidney stones) in the Northern European and Japanese populations. CLCN5 encodes a 746 amino acid channel (CLC-5) that has approximately 12 transmembrane domains, and heterologous expression of wild-type CLC-5 in Xenopus oocytes has yielded outwardly rectifying chloride currents that were markedly reduced or abolished by these mutations. In ...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/6.8.1233

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Journal:
Human molecular genetics
Volume:
6
Issue:
8
Pages:
1233-1239
Publication date:
1997-08-01
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Source identifiers:
25923
Language:
English
Keywords:
Pubs id:
pubs:25923
UUID:
uuid:0ea0248e-11b5-492d-8763-6808a9eb28f5
Local pid:
pubs:25923
Deposit date:
2012-12-19

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