title: Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency.
abstract: We evaluated FV mRNA in severe factor V deficiency caused by the -12T/A IVS18 mutation, activating a cryptic splice site and leading to premature translation termination. Quantitative evaluation of factor V cDNA from homozygous and heterozygous subjects, and correction for nonsense mediated decay, suggested the presence of 0.1% of normal factor V mRNA.
authors.forename: Barbara
authors.initials: B
authors.lastname: Lunghi
authors.forename: Mirko
authors.initials: M
authors.lastname: Pinotti
authors.forename: Iva
authors.initials: I
authors.lastname: Maestri
authors.forename: Angelika
authors.initials: A
authors.lastname: Batorova
authors.forename: Francesco
authors.initials: F
authors.lastname: Bernardi
mesh_terms: D015415:Biomarkers; D018389:Codon, Nonsense; D018076:DNA, Complementary / Q000235:genetics; D005165:Factor V / Q000096:biosynthesis / Q000235:genetics*; D005166:Factor V Deficiency / Q000097:blood* / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D006801:Humans; D016254:Mutagenesis, Insertional; D022821:RNA Splice Sites / Q000235:genetics*; D012326:RNA Splicing; D020871:RNA Stability; D012333:RNA, Messenger / Q000097:blood* / Q000235:genetics
chemical_list: D015415:Biomarkers; D018389:Codon, Nonsense; D018076:DNA, Complementary; D022821:RNA Splice Sites; D012333:RNA, Messenger; D005165:Factor V