title: A novel nonsense mutation in exon 2 of the factor IX gene resulting in severe haemophilia B.
authors.forename: Marcello
authors.initials: M
authors.lastname: Niceta
authors.forename: Carmelo
authors.initials: C
authors.lastname: Fabiano
authors.forename: Pietro
authors.initials: P
authors.lastname: Sammarco
authors.forename: Fabio
authors.initials: F
authors.lastname: Gagliano
authors.forename: Giacomo
authors.initials: G
authors.lastname: Mancuso
mesh_terms: D018389:Codon, Nonsense; D005091:Exons; D005164:Factor IX / Q000235:genetics*; D005190:Family; D005260:Female; D005820:Genetic Testing; D002836:Hemophilia B / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D011994:Recombinant Proteins / Q000627:therapeutic use
chemical_list: D018389:Codon, Nonsense; D011994:Recombinant Proteins; D005164:Factor IX