{"id":{"repo_id":"edithcowan","oai_identifier":"oai:ro.ecu.edu.au:theses-1763"},"canonical_url":"https://search.dev.ndltd.org/etd/edithcowan/oai:ro.ecu.edu.au:theses-1763","repository":{"repo_id":"edithcowan","name":"Edith Cowan University","base_url":"https://ro.ecu.edu.au/do/oai/"},"display":{"title":"Genetic and non-genetic factors involved in modifying the clinical severity of autosomal dominant polycystic kidney disease","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.","abstract_html":"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.","abstract_has_math":false,"creators":["Schiavello, Tina"],"institution":"Edith Cowan University, Research Online, Perth, Western Australia","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":[],"advisors":[],"committee_chairs":[],"committee_members":[],"year":2002,"date_issued":"2002-01-01T08:00:00Z","date_published":"2002-01-01T08:00:00Z","updated_at":"2026-07-27T19:22:46Z","subjects":["Polycystic kidney disease","Genetic aspects","Polycystic kidney disease.","Medicine and Health Sciences"],"languages":[],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"https://ro.ecu.edu.au/theses/762","outbound_label":"Repository record","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:creator","label":"Author","values":["Schiavello, Tina"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date","label":"Dc Date","values":["2002-01-01T08:00:00Z"]},{"key":"dc:publisher","label":"Institution","values":["Edith Cowan University, Research Online, Perth, Western Australia"]},{"key":"dc:type","label":"Dc Type","values":["thesis"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["Polycystic kidney disease","Genetic aspects","Polycystic kidney disease.","Medicine and Health Sciences"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["https://ro.ecu.edu.au/theses/762","https://ro.ecu.edu.au/context/theses/article/1763/viewcontent/Genetic_and_non_genetic_factors_involved_in_modifying.pdf"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description","label":"Description","values":["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."]},{"key":"dc:format","label":"Dc Format","values":["application/pdf"]},{"key":"dc:source","label":"Dc Source","values":["Theses: Doctorates and Masters"]},{"key":"dc:title","label":"Title","values":["Genetic and non-genetic factors involved in modifying the clinical severity of autosomal dominant polycystic kidney disease"]}]}],"canonical_facts":{"dc:creator":["Schiavello, Tina"],"dc:date":["2002-01-01T08:00:00Z"],"dc:description":["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."],"dc:format":["application/pdf"],"dc:identifier":["https://ro.ecu.edu.au/theses/762","https://ro.ecu.edu.au/context/theses/article/1763/viewcontent/Genetic_and_non_genetic_factors_involved_in_modifying.pdf"],"dc:publisher":["Edith Cowan University, Research Online, Perth, Western Australia"],"dc:source":["Theses: Doctorates and Masters"],"dc:subject":["Polycystic kidney disease","Genetic aspects","Polycystic kidney disease.","Medicine and Health Sciences"],"dc:title":["Genetic and non-genetic factors involved in modifying the clinical severity of autosomal dominant polycystic kidney disease"],"dc:type":["thesis"]},"updated_at":"2026-07-27T19:22:46Z"}