Nomenclature for the description of human sequence variations

Human Genetics

Volumn 109, Issue 1, 2001, Pages 121-124

  Den Dunnen, J T ^a   Antonarakis, E ^a  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

AMINO ACID SUBSTITUTION; DNA POLYMORPHISM; DNA SEQUENCE; GENE DELETION; GENE DUPLICATION; GENE INSERTION SEQUENCE; GENE MUTATION; GENE SEQUENCE; HUMAN; NOMENCLATURE; NOTE; PRIORITY JOURNAL; PROTEIN STRUCTURE; SEQUENCE ANALYSIS;

AMINO ACID SUBSTITUTION; DNA; HUMANS; MUTATION; POLYMORPHISM, GENETIC; PROTEINS; REPETITIVE SEQUENCES, NUCLEIC ACID; RNA; SEQUENCE DELETION; TERMINOLOGY; VARIATION (GENETICS);

EID: 0034908554     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100505     Document Type: Note

References (2)

1. Recommendations for a nomenclature system for human gene mutations
2. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion