- 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
- 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:
- 1997-08-05
- DOI:
- EISSN:
-
1460-2083
- ISSN:
-
0964-6906
- URN:
-
uuid:0ea0248e-11b5-492d-8763-6808a9eb28f5
- Source identifiers:
-
25923
- Local pid:
- pubs:25923
- Language:
- English
- Keywords:
- Copyright date:
- 1997
Journal article
Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.
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