Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease

Human Mutation

Volumn 32, Issue 10, 2011, Pages 1137-1143

  Wolf, Andreas ^a   Caliebe, Amke ^a   Thomas, Nick S T ^b   Ball, Edward V ^b   Mort, Matthew ^b   Stenson, Peter D ^b   Krawczak, Michael ^a   Cooper, David N ^b  

^a UNIVERSITY OF KIEL   (Germany)

^b CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Human Gene Mutation Database; Inherited disease; Initiator methionine; Kozak consensus sequence; Translation initiation codon

Indexed keywords

ARTICLE; BASE PAIRING; CODON; DNA FLANKING REGION; DNA SEQUENCE; GENE LOCATION; GENE SEQUENCE; GENETIC DISORDER; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; TRANSLATION INITIATION;

5' FLANKING REGION; CODON, INITIATOR; CONSENSUS SEQUENCE; DATABASES, GENETIC; GENETIC DISEASES, INBORN; HUMANS; MUTATION RATE; OPEN READING FRAMES; PEPTIDE CHAIN INITIATION, TRANSLATIONAL; POINT MUTATION;

EID: 80053018555     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21547     Document Type: Article

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