Article
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.
Journal of the American Society of Nephrology : JASN - 1 Jun 2016
Hwang Young-Hwan, Conklin John, Chan Winnie, Roslin Nicole M, Liu Jannel, He Ning, Wang Kairong, Sundsbak Jamie L, Heyer Christina M, Haider Masoom, Paterson Andrew D, Harris Peter C, Pei York
Abstract excerpt
Renal disease variability in autosomal dominant polycystic kidney disease (ADPKD) is strongly influenced by the gene locus (PKD1 versus PKD2). Recent studies identified nontruncating PKD1 mutations in approximately 30% of patients who underwent comprehensive mutation screening, but the clinical significance of these mutations is not well defined. We examined the genotype-renal function correlation in a...
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