title: Proof of "disease causing" mutation.
authors.affiliation: Mutation Research Centre, St. Vincent's Hospital, Melbourne, Victoria, Australia. horaitis@ariel.ucs.unimelb.edu.au
authors.forename: R G
authors.initials: RG
authors.lastname: Cotton
authors.forename: C R
authors.initials: CR
authors.lastname: Scriver
mesh_terms: D000483:Alleles; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010641:Phenotype; D009626:Terminology as Topic