A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment

Human Mutation

Volumn 30, Issue 2, 2009, Pages 221-227

  Davis, Ryan L ^a   Homer, Vivienne M ^b   George, Peter M ^a,b   Brennan, Stephen O ^a,b  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b CANTERBURY HEALTH LABORATORIES   (New Zealand)

Author keywords

Afibrinogenemia; Antisense gene therapy; Cryptic exon; FGB; Fibrinogen; Phosphorodiamidate morpholino; pre mRNA splicing

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; MESSENGER RNA; MESSENGER RNA PRECURSOR; MESSENGER RNA PRECURSOR SPLICING FACTOR 2; OLIGONUCLEOTIDE; PHOSPHORODIAMIDATE MORPHOLINO OLIGONUCLEOTIDES; PROTEIN INTERACTING WITH PROTEIN KINASE C; UNCLASSIFIED DRUG;

AFIBRINOGENEMIA; ANIMAL CELL; ANTISENSE THERAPY; ARTICLE; CONTROLLED STUDY; EXON; FIBRINOGEN BETA GENE; FIBRINOGEN SYNTHESIS; GENE; GENE MUTATION; GENETIC TRANSFECTION; INTRON; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN INTERACTION; PROTEIN MOTIF; RNA SPLICING; RNA TRANSLATION; SPLICEOSOME;

AFIBRINOGENEMIA; ANIMALS; BASE SEQUENCE; CERCOPITHECUS AETHIOPS; CONSENSUS SEQUENCE; COS CELLS; ENHANCER ELEMENTS, GENETIC; EXONS; FIBRINOGEN; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; MUTATION; OLIGONUCLEOTIDES, ANTISENSE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA;

EID: 59749094710     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20839     Document Type: Article

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