Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients.
Toshio MochizukiAtsuko TeraokaHiroyuki AkagawaShiho MakabeTaro AkihisaMasayo SatoHiroshi KataokaMichihiro MitobeToru FurukawaKen TsuchiyaKosaku NittaPublished in: Clinical and experimental nephrology (2019)
Although NGS is useful, we propose the addition of Sanger sequencing for exon 1 of PKD1 and MLPA as indispensable for identifying mutations not detected by NGS.