Date of Award
Doctor of Philosophy
Faculty of Computing, Health and Science
Associate Professor Luba Kalaydjieva
Associate Professor Mark Thomas
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common Mendelian disorders, affecting approximately 1 in 1000 individuals. The disease is recognised as a systemic disorder, which expresses a complex phenotype between and within families. Mutations in at least two genes (PKDI and PKDZ) result in ADPKD, however, additional genetic and non-genetic factors are expected to contribute to the observed phenotypic variance.
Schiavello, T. (2002). Genetic and non-genetic factors involved in modifying the clinical severity of autosomal dominant polycystic kidney disease. Retrieved from https://ro.ecu.edu.au/theses/762