title: A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency.
abstract: The Glu117stop mutation in the factor XI (FXI) gene is the most common cause of FXI deficiency and might cause the disease either by poor secretion/stability of the truncated protein or by decreased mRNA levels. Platelet- and lymphocyte-derived mRNA from three Glu117stop heterozygotes were analyzed by reverse-transcriptase polymerase chain reaction and sequencing, demonstrating allele-specific reduction of FXI Glu117stop mRNA.
authors.forename: Giulia
authors.initials: G
authors.lastname: Soldà
authors.forename: Rosanna
authors.initials: R
authors.lastname: Asselta
authors.forename: Rossella
authors.initials: R
authors.lastname: Ghiotto
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Tenchini
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Castaman
authors.forename: Stefano
authors.initials: S
authors.lastname: Duga
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001792:Blood Platelets / Q000378:metabolism; D002648:Child; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D012333:RNA, Messenger / Q000378:metabolism*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D018389:Codon, Nonsense; D012333:RNA, Messenger; D005172:Factor XI