Autosomal Dominant Hypercalciuria in a Mouse Model Due to a Mutation of the Epithelial Calcium Channel, TRPV5

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...

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Detalles Bibliográficos
Autores principales: Loh, Nellie Y., Bentley, Liz, Dimke, Henrik, Verkaart, Sjoerd, Tammaro, Paolo, Gorvin, Caroline M., Stechman, Michael J., Ahmad, Bushra N., Hannan, Fadil M., Piret, Sian E., Evans, Holly, Bellantuono, Ilaria, Hough, Tertius A., Fraser, William D., Hoenderop, Joost G. J., Ashcroft, Frances M., Brown, Steve D. M., Bindels, René J. M., Cox, Roger D., Thakker, Rajesh V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3559602/
https://www.ncbi.nlm.nih.gov/pubmed/23383183
http://dx.doi.org/10.1371/journal.pone.0055412

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