{"id":{"repo_id":"edithcowan","oai_identifier":"oai:ro.ecu.edu.au:theses-1724"},"canonical_url":"https://search.dev.ndltd.org/etd/edithcowan/oai:ro.ecu.edu.au:theses-1724","repository":{"repo_id":"edithcowan","name":"Edith Cowan University","base_url":"https://ro.ecu.edu.au/do/oai/"},"display":{"title":"Mutation detection for genotype/phenotype correlation studies in autosomal dominant polycystic kidney disease","abstract":"Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders (Gabow, 1993), with an estimated prevalence of 1 in 400 to 1 in 1000 (Dalgaard, 1957; Gabow, 1993). The disease is the fourth leading cause of renal failure with more than 10 million people affected worldwide (Grantham, 1997). Mutations in at least two genes (PKD1, PKD2) can lead to the disease (European PDK Consortium, 1994; Mochizuki, et al, 1996). This project deals with autosomal dominant PKD, caused by mutations in the PKD1 gene, which account for 85% of reported cases.","abstract_html":"Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders (Gabow, 1993), with an estimated prevalence of 1 in 400 to 1 in 1000 (Dalgaard, 1957; Gabow, 1993). The disease is the fourth leading cause of renal failure with more than 10 million people affected worldwide (Grantham, 1997). Mutations in at least two genes (PKD1, PKD2) can lead to the disease (European PDK Consortium, 1994; Mochizuki, et al, 1996). This project deals with autosomal dominant PKD, caused by mutations in the PKD1 gene, which account for 85% of reported cases.","abstract_has_math":false,"creators":["McCluskey, Marie"],"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":"2026-07-27T19:22:24Z","subjects":["Polycystic kidney disease","Genetic aspects","Mutation","Biology.","Medicine and Health Sciences"],"languages":[],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"https://ro.ecu.edu.au/theses/723","outbound_label":"Repository record","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:creator","label":"Author","values":["McCluskey, Marie"]}]},{"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","Mutation","Biology.","Medicine and Health Sciences"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["https://ro.ecu.edu.au/theses/723","https://ro.ecu.edu.au/context/theses/article/1724/viewcontent/Mutation_detection_for_genotype_phenotype_correlation_studies_in_compressed.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 genetic disorders (Gabow, 1993), with an estimated prevalence of 1 in 400 to 1 in 1000 (Dalgaard, 1957; Gabow, 1993). The disease is the fourth leading cause of renal failure with more than 10 million people affected worldwide (Grantham, 1997). Mutations in at least two genes (PKD1, PKD2) can lead to the disease (European PDK Consortium, 1994; Mochizuki, et al, 1996). This project deals with autosomal dominant PKD, caused by mutations in the PKD1 gene, which account for 85% of reported cases."]},{"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":["Mutation detection for genotype/phenotype correlation studies in autosomal dominant polycystic kidney disease"]}]}],"canonical_facts":{"dc:creator":["McCluskey, Marie"],"dc:date":["2002-01-01T08:00:00Z"],"dc:description":["Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders (Gabow, 1993), with an estimated prevalence of 1 in 400 to 1 in 1000 (Dalgaard, 1957; Gabow, 1993). The disease is the fourth leading cause of renal failure with more than 10 million people affected worldwide (Grantham, 1997). Mutations in at least two genes (PKD1, PKD2) can lead to the disease (European PDK Consortium, 1994; Mochizuki, et al, 1996). This project deals with autosomal dominant PKD, caused by mutations in the PKD1 gene, which account for 85% of reported cases."],"dc:format":["application/pdf"],"dc:identifier":["https://ro.ecu.edu.au/theses/723","https://ro.ecu.edu.au/context/theses/article/1724/viewcontent/Mutation_detection_for_genotype_phenotype_correlation_studies_in_compressed.pdf"],"dc:publisher":["Edith Cowan University, Research Online, Perth, Western Australia"],"dc:source":["Theses: Doctorates and Masters"],"dc:subject":["Polycystic kidney disease","Genetic aspects","Mutation","Biology.","Medicine and Health Sciences"],"dc:title":["Mutation detection for genotype/phenotype correlation studies in autosomal dominant polycystic kidney disease"],"dc:type":["thesis"]},"updated_at":"2026-07-27T19:22:24Z"}