Journal article icon

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 ...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1093/hmg/6.8.1233

Authors


Gunther, W More by this author
Pearce, SH More by this author
Thomson, A More by this author
Bianchi, ML More by this author
Expand authors...
Journal:
Human molecular genetics
Volume:
6
Issue:
8
Pages:
1233-1239
Publication date:
1997-08-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:0ea0248e-11b5-492d-8763-6808a9eb28f5
Source identifiers:
25923
Local pid:
pubs:25923

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