title: Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay.
authors.forename: M
authors.initials: M
authors.lastname: Baralle
authors.forename: D
authors.initials: D
authors.lastname: Baralle
authors.forename: L
authors.initials: L
authors.lastname: De Conti
authors.forename: C
authors.initials: C
authors.lastname: Mattocks
authors.forename: J
authors.initials: J
authors.lastname: Whittaker
authors.forename: A
authors.initials: A
authors.lastname: Knezevich
authors.forename: C
authors.initials: C
authors.lastname: Ffrench-Constant
authors.forename: F E
authors.initials: FE
authors.lastname: Baralle
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D004247:DNA / Q000235:genetics / Q000378:metabolism; D005091:Exons / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation; D025542:Neurofibromin 1 / Q000235:genetics*; D010957:Plasmids / Q000235:genetics; D012342:RNA, Small Nuclear / Q000235:genetics / Q000378:metabolism; D014162:Transfection; D014407:Tumor Cells, Cultured
chemical_list: D025542:Neurofibromin 1; D012342:RNA, Small Nuclear; C405483:U1 small nuclear RNA; D004247:DNA