PRJNA521643
Analysis of PKD1 and PKD2 Mutations in Pedigrees with ADPKD
. Methods: In this study, mutation analysis of PKD1 and PKD2 genes in 9 families were performed using Next generation sequencing. All patients met the diagnostic criteria of ADPKD. Results: Mutations were found in all 9 families in PKD1 gene, comprising 2 novel and 7 previously reported mutations. No mutation in PKD2 were identified.