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Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.

Abstract:

Hypercalciuria is a major cause of nephrolithiasis, and is a common and complex disorder involving genetic and environmental factors. Identification of genetic factors for monogenic forms of hypercalciuria is hampered by the limited availability of large families, and to facilitate such studies, we screened for hypercalciuria in mice from an N-ethyl-N-nitrosourea mutagenesis programme. We identified a mouse with autosomal dominant hypercalciuria (HCALC1). Linkage studies mapped the Hcalc1 loc...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1371/journal.pone.0055412

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
OCDEM
Role:
Author
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Institution:
University of Oxford
Division:
MSD
Department:
Pharmacology
Role:
Author
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European Union More from this funder
Medical Research Council More from this funder
Wellcome Trust More from this funder
Kidney Research UK More from this funder
European Science Foundation More from this funder
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Publisher:
Public Library of Science Publisher's website
Journal:
PloS one Journal website
Volume:
8
Issue:
1
Pages:
e55412
Publication date:
2013-01-01
DOI:
EISSN:
1932-6203
ISSN:
1932-6203
Source identifiers:
384109

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