Missense mutations of human homeoboxes: A review

Human Mutation

Volumn 18, Issue 5, 2001, Pages 361-374

  Delia, Angela V ^a   Tell, Gianluca ^a   Paron, Igor ^b   Pellizzari, Lucia ^b   Lonigro, Renata ^a   Damante, Giuseppe ^a,b  

^a UNIVERSITY OF UDINE   (Italy)

^b UNIVERSITY OF TRIESTE   (Italy)

Author keywords

Consensus sequence; Development; DNA binding domain; Haploinsufficiency; Homeobox; Homeodomain; HOX; Mouse models; Mutation hot spot; Protein structure; Transcription factors

Indexed keywords

ARGININE; DNA BINDING PROTEIN; HOMEODOMAIN PROTEIN;

AMINO ACID SUBSTITUTION; CODON; CONGENITAL MALFORMATION; DISEASE ASSOCIATION; GENE SEQUENCE; GENETIC DISORDER; HOMEOBOX; HUMAN; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; GENES, DOMINANT; GENES, HOMEOBOX; GENETIC DISEASES, INBORN; HOMEODOMAIN PROTEINS; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY;

EID: 0035169038     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1207     Document Type: Review

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