Date of Award

1-1-2002

Degree Type

Thesis

Degree Name

Doctor of Philosophy

Faculty

Faculty of Computing, Health and Science

First Advisor

Associate Professor Luba Kalaydjieva

Second Advisor

Associate Professor Mark Thomas

Abstract

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.

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