Proof of "disease causing" mutation

Hum Mutat. 1998;12(1):1-3. doi: 10.1002/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO;2-M.

Authors

R G Cotton¹, C R Scriver

Affiliation

¹ Mutation Research Centre, St. Vincent's Hospital, Melbourne, Victoria, Australia. horaitis@ariel.ucs.unimelb.edu.au

PMID: 9633813
DOI: 10.1002/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO;2-M

No abstract available

MeSH terms

Alleles
Genetic Diseases, Inborn / genetics*
Humans
Mutation*
Phenotype
Terminology as Topic