title: An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene.
abstract: We describe a family with autosomal dominant polycystic kidney disease in which molecular typing with closely linked markers for the PKD1 and PKD2 genes indicated absence of linkage. Thus, a third still unknown locus appears likely to be involved in disease development. This is the fourth "PKD3-linked" family described to date and the first from Italy.
authors.affiliation: Institute of Genetics, University of Verona School of Medicine, University Hospital Polyclinic Borgo Roma, Italy.
authors.forename: A E
authors.initials: AE
authors.lastname: Turco
authors.forename: M
authors.initials: M
authors.lastname: Clementi
authors.forename: S
authors.initials: S
authors.lastname: Rossetti
authors.forename: R
authors.initials: R
authors.lastname: Tenconi
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D002894:Chromosomes, Human, Pair 4; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000453:epidemiology / Q000235:genetics*