A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient

Blood Cells, Molecules, and Diseases

Volumn 43, Issue 2, 2009, Pages 194-198

  Pointon, Jennifer J ^a   Lok, Chun Yu ^a   Shearman, Jeremy D ^a   Suckling, Richard J ^a   Rochette, Jacques ^b   Merryweather Clarke, Alison T ^a   Robson, Kathryn J H ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b UNIVERSITÉ DE PICARDIE JULES VERNE   (France)

Author keywords

c.del478; Haploinsufficiency; Hemochromatosis; HFE; Nonsense mediated decay

Indexed keywords

CYSTEINE; FERROPORTIN; HEMOJUVELIN; HEPCIDIN; HFE PROTEIN; IRON; MESSENGER RNA; TRANSFERRIN RECEPTOR 2; TYROSINE;

ADULT; ARTICLE; CASE REPORT; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HEMOCHROMATOSIS; HETEROZYGOTE; HUMAN; HUMAN CELL; IRON BLOOD LEVEL; JAUNDICE; MALE; MUTANT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA DEGRADATION; STOP CODON;

CODON, NONSENSE; EXONS; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA STABILITY; SEQUENCE DELETION; TRANSCRIPTION, GENETIC;

EID: 68049099280     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2009.04.007     Document Type: Article

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