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