Mutation nomenclature: Nicknames, systematic names, and unique identifiers

Human Mutation

Volumn 8, Issue 3, 1996, Pages 203-206

  Beutler, Ernest ^a   McKusick, Victor A ^b   Motulsky, Arno G ^c   Scriver, Charles R ^d   Hutchinson, Franklin ^e  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b JOHNS HOPKINS HOSPITAL   (United States)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d MONTREAL CHILDREN S HOSPITAL   (Canada)

^e YALE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DATA ANALYSIS; DATA BASE; GENE DELETION; GENE ISOLATION; GENE MUTATION; HUMAN; HUMAN CELL; NOMENCLATURE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; BASE SEQUENCE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA, COMPLEMENTARY; ENZYMES; GLOBINS; HUMANS; MUTATION; POINT MUTATION; TERMINOLOGY;

EID: 0029797046     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:3<203::AID-HUMU1>3.0.CO;2-A     Document Type: Article

References (4)

1. Ad Hoc Committee on Mutation Nomenclature (AHCMN) (1996) Update on nomenclature for mutations. Hum Mutat 8:197-202.
2. Beaudet AL, Tsui LC (1993) A suggested nomenclature for designating mutations. Hum Mutat 4:245-248.
3. Beutler E (1993) The designation of mutations. Am J Hum Genet 53:783-785.
4. McKusick VA (1996) http://www3.ncbi.nlm.nih.gov/omim/. World Wide Web.