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...
Principais autores: | Loh, N, Bentley, L, Dimke, H, Verkaart, S, Tammaro, P, Gorvin, C, Stechman, M, Ahmad, B, Hannan, F, Piret, S, Evans, H, Bellantuono, I, Hough, T, Fraser, W, Hoenderop, J, Ashcroft, F, Brown, S, Bindels, R, Cox, R, Thakker, R |
---|---|
Formato: | Journal article |
Idioma: | English |
Publicado em: |
Public Library of Science
2013
|
Registros relacionados
-
Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.
por: Nellie Y Loh, et al.
Publicado em: (2013-01-01) -
Genetic aspects of hypercalciuria
por: Thakker, R
Publicado em: (2005) -
A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges.
por: Burren, C, et al.
Publicado em: (2005) -
Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuria.
por: Scheinman, S, et al.
Publicado em: (2000) -
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation
por: Piret, S, et al.
Publicado em: (2016)