Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations

Human Mutation

Volumn 33, Issue 9, 2012, Pages 1373-1376

  Pinotti, Mirko ^a   Caruso, Pierpaolo ^a   Canella, Alessandro ^a   Campioni, Matteo ^a   Tagariello, Giuseppe ^b   Castaman, Giancarlo ^c   Giacomelli, Sofia ^c   Belvini, Donata ^b   Bernardi, Francesco ^a  

^a UNIVERSITY OF FERRARA   (Italy)

^b Centro Regionale per le Malattie del Sangue ed Emofilia   (Italy)

^c SAN BORTOLO HOSPITAL   (Italy)

Author keywords

Coagulation factor; F9; Nonsense mutations; Readthrough; Ribosome

Indexed keywords

ANTIGEN; BLOOD CLOTTING FACTOR 9; MESSENGER RNA; RECOMBINANT BLOOD CLOTTING FACTOR 9;

ARTICLE; BLOOD CLOTTING; BLOOD SAMPLING; DRUG HALF LIFE; ENZYME LINKED IMMUNOSORBENT ASSAY; EUKARYOTIC CELL; GENE EXPRESSION; HEMOPHILIA B; HISTOPATHOLOGY; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; MOLECULE; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN SECRETION; RIBOSOME; RIBOSOME READTHROUGH; WESTERN BLOTTING;

BLOTTING, WESTERN; CODON, NONSENSE; FACTOR IX; HALF-LIFE; HEMOPHILIA B; HUMANS; MUTAGENESIS, SITE-DIRECTED; PREDICTIVE VALUE OF TESTS; RECOMBINANT PROTEINS; RIBOSOMES; RNA STABILITY; RNA, MESSENGER;

EUKARYOTA;

EID: 84865170517     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22120     Document Type: Article

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