A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).

Abstract

Recently the second gene for autosomal dominant polycystic kidney disease (ADPKD), located on chromosome 4q21-q22, has been cloned and characterized. The gene encodes an integral membrane protein, polycystin-2, that shows amino acid similarity to the PKD1 gene product and to the family of voltage-activated calcium (and sodium) channels. We have… (More)

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@article{Veldhuisen1997ASO, title={A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).}, author={Barbera Veldhuisen and Jasper J Saris and Simone de Haij and Toshiaki Hayashi and David M. Reynolds and Tsutomu Mochizuki and Rob G Elles and Ragnheiður Fossdal and Nadja Bogdanova and Marjan A van Dijk and E. Coto and David G Ravine and S\oren N\orby and Christine Verellen-Dumoulin and Martijn H. Breuning and Stefan Somlo and Dorien J. M. Peters}, journal={American journal of human genetics}, year={1997}, volume={61 3}, pages={547-55} }