Congenital progressive hydronephrosis (cph) is caused by an S256L mutation in aquaporin-2 that affects its phosphorylation and apical membrane accumulation.

Abstract

Congenital progressive hydronephrosis (cph) is a spontaneous recessive mutation that causes severe hydronephrosis and obstructive nephropathy in affected mice. The mutation has been mapped to the distal end of mouse chromosome 15, but the mutated gene has not been found. Here, we describe the identification of a single base pair change in aquaporin-2 (Aqp2… (More)

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@article{McDill2006CongenitalPH, title={Congenital progressive hydronephrosis (cph) is caused by an S256L mutation in aquaporin-2 that affects its phosphorylation and apical membrane accumulation.}, author={Bradley W McDill and Song-Zhe Li and Paul A Kovach and Li Ding and Feng Chen}, journal={Proceedings of the National Academy of Sciences of the United States of America}, year={2006}, volume={103 18}, pages={6952-7} }