title: Mutations and intragenic polymorphisms in the diagnosis of autosomal dominant polycystic kidney disease type 1.
authors.affiliation: Department of Genetics, Hospital Clinic, University of Barcelona, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Badenas
authors.forename: R
authors.initials: R
authors.lastname: Torra
authors.forename: A
authors.initials: A
authors.lastname: Darnell
authors.forename: X
authors.initials: X
authors.lastname: Estivill
mesh_terms: D005260:Female; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D050396:TRPP Cation Channels
chemical_list: D011506:Proteins; D050396:TRPP Cation Channels