Article
Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells.
American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 May 1999
Aguiari G, Manzati E, Penolazzi L, Micheletti F, Augello G, Vitali E D, Cappelli G, Cai Y, Reynolds D, Somlo S, Piva R, del Senno L
Abstract excerpt
The polycystic kidney disease 2 (PKD2) gene, encoding a 968-amino acid integral membrane protein with six predicted membrane-spanning domains and intracellular NH2 and COOH termini, is mutated in approximately 15% of the cases of autosomal dominant polycystic kidney disease (ADPKD), a common genetic disease frequently resulting in renal failure. For a better understanding of the cause of this disorder, we...
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