title: Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene.
authors.affiliation: Cantonal Hospital, Geneva, Switzerland.
authors.forename: G
authors.initials: G
authors.lastname: Perrin
authors.forename: M A
authors.initials: MA
authors.lastname: Morris
authors.forename: S E
authors.initials: SE
authors.lastname: Antonarakis
authors.forename: E
authors.initials: E
authors.lastname: Boltshauser
authors.forename: P
authors.initials: P
authors.lastname: Hutter
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D015342:DNA Probes / Q000737:chemistry; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D005260:Female; D016514:Genes, Neurofibromatosis 1 / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics; D012326:RNA Splicing / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D017421:Sequence Analysis
chemical_list: D015342:DNA Probes; D025542:Neurofibromin 1; D011506:Proteins; D012333:RNA, Messenger