Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Human Mutation

Volumn 15, Issue 1, 2000, Pages 7-12

  Den Dunnen, Johan T ^a   Antonarakis, Stylianos E ^b  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

Author keywords

Complex mutation; MDI; Mutation database; Mutation detection; Nomenclature

Indexed keywords

ACCURACY; AMINO ACID SUBSTITUTION; ARTICLE; DATA BASE; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INFORMATION SYSTEM; NOMENCLATURE; PRIORITY JOURNAL; RECESSIVE GENE;

BASE SEQUENCE; CODON; DNA; EXONS; GENOME, HUMAN; HUMANS; MUTATION; POLYMORPHISM, GENETIC; PROTEINS; RNA; TERMINOLOGY;

EID: 0033987736     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N     Document Type: Article

References (4)

1. Antonarakis SE, the Nomenclature Working Group. 1998. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11:1-3.
2. Beaudet AL, the Ad Hoc Committee on Mutation Nomenclature. 1996. Update on nomenclature for human gene mutations. Hum Mutat 8:197-202.
3. Beutler E, McKusick VA, Motulsky A, Scriver CR, Hutchinson F. 1996. Mutation nomenclature: nicknames, systematic names and unique identifiers. Hum Mutat 8:203-206.
4. Richard I, Beckmann JS. 1995. How neutral are synonymous codon mutations? Nat Genet 10:259.