Update on nomenclature for human gene mutations

Human Mutation

Volumn 8, Issue 3, 1996, Pages 197-202

  Beaudet, Arthur L ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; ARTICLE; DNA FLANKING REGION; GENE MUTATION; HUMAN; HUMAN CELL; NOMENCLATURE; PRACTICE GUIDELINE; PRIORITY JOURNAL; PUBLICATION; SEQUENCE ANALYSIS;

EID: 0029848852     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1380080302     Document Type: Article

References (5)

1. Antonarakis SE, McKusick VA (1994) Discussion on mutation nomenclature. Hum Mutat 4:166.
2. Beaudet AL, Tsui L (1993) A suggested nomenclature for designating mutations. Hum Mutat 2:245-248.
3. Beutler E (1993) The designation of mutations. Am J Hum Genet 53:783-785.
4. Peake I, Tuddenham E (1994) A standard nomenclature for factor VIII and factor IX gene mutations and associated amino acid alterations: On behalf of the ISTH SSC Subcommittee on Factor VIII and Factor IX. Thromb Haemost 72:475-476.
5. Tsui L (1992) Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the Cystic Fibrosis Genetic Analysis Consortium. Hum Mutat 1:197-203.