Article
A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).
American journal of human genetics - 1 Sept 1997
Veldhuisen B, Saris J J, de Haij S, Hayashi T, Reynolds D M, Mochizuki T, Elles R, Fossdal R, Bogdanova N, van Dijk M A, Coto E, Ravine D, Nørby S, Verellen-Dumoulin C, Breuning M H, Somlo S, Peters D J
Abstract excerpt
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...
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