A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease

Human Genomics

Volumn 5, Issue 4, 2011, Pages 241-264

  Hamby, Stephen E ^a   Thomas, Nick S T ^b   Cooper, David N ^b   Chuzhanova, Nadia ^a  

^a NOTTINGHAM TRENT UNIVERSITY   (United Kingdom)

^b CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

3' untranslated region; Human inherited disease; Nonstop mRNA decay; Nonstop mutation; Stop codon

Indexed keywords

3' UNTRANSLATED REGION; ARTICLE; GENETIC DISORDER; GENETICS; HUMAN; HUMAN GENOME; META ANALYSIS; MISSENSE MUTATION; OPEN READING FRAME; POINT MUTATION; PROTEIN SYNTHESIS; STOP CODON;

3' UNTRANSLATED REGIONS; CODON, NONSENSE; CODON, TERMINATOR; GENETIC DISEASES, INBORN; GENOME, HUMAN; HUMANS; MUTATION, MISSENSE; OPEN READING FRAMES; POINT MUTATION; PROTEIN BIOSYNTHESIS;

EID: 80053020282     PISSN: 14739542     EISSN: 14797364     Source Type: Journal    
DOI: 10.1186/1479-7364-5-4-241     Document Type: Article

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