Article
Molecular diagnosis of autosomal dominant polycystic kidney disease.
Expert review of molecular diagnostics - 1 Oct 2017
Song Xuewen, Haghighi Amirreza, Iliuta Ioan-Andrei, Pei York
Abstract excerpt
INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease that accounts for 5-10% of end-stage renal disease in developed countries. Mutations in PKD1 and PKD2 account for a majority of cases. Mutation screening of PKD1 is technically challenging largely due to the complexity resulting from duplication of its first 33 exons in six highly homologous pseudogenes...
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