Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease
S Rossetti, MB Consugar, AB Chapman… - Journal of the …, 2007 - journals.lww.com
Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease
(ADPKD) is complicated by genetic and allelic heterogeneity, large multi-exon genes,
duplication of PKD1, and a high level of unclassified variants (UCV). Present mutation
detection levels are 60 to 70%, and PKD1 and PKD2 UCV have not been systematically
classified. This study analyzed the uniquely characterized Consortium for Radiologic
Imaging Study of PKD (CRISP) ADPKD population by molecular analysis. A cohort of 202 …
(ADPKD) is complicated by genetic and allelic heterogeneity, large multi-exon genes,
duplication of PKD1, and a high level of unclassified variants (UCV). Present mutation
detection levels are 60 to 70%, and PKD1 and PKD2 UCV have not been systematically
classified. This study analyzed the uniquely characterized Consortium for Radiologic
Imaging Study of PKD (CRISP) ADPKD population by molecular analysis. A cohort of 202 …