Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease
Miranda Durkie, Jiehan Chong, Manoj K. Valluru, Peter C. Harris, Albert Ong
Topics & Concepts
PKD1Polycystic kidney diseaseMedicineMultiplex ligation-dependent probe amplificationSanger sequencingCompound heterozygosityNewborn screeningGeneticsExome sequencingMedical geneticsBiologyDiseaseInternal medicineAlleleMutationGeneExonGenetic and Kidney Cyst DiseasesVascular Malformations and HemangiomasRenal and related cancers