title: A novel insertional mutation of a single base in exon 34 of the neurofibromatosis-1 gene.
authors.affiliation: Duncan Guthrie Institute of Medical Genetics, University of Glasgow, Yorkhill, Scotland, U.K.
authors.forename: S M
authors.initials: SM
authors.lastname: Purandare
authors.forename: H R
authors.initials: HR
authors.lastname: Davidson
authors.forename: W G
authors.initials: WG
authors.lastname: Lanyon
authors.forename: J M
authors.initials: JM
authors.lastname: Connor
mesh_terms: D000328:Adult; D001483:Base Sequence; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D016514:Genes, Neurofibromatosis 1 / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1; D009692:Nucleic Acid Heteroduplexes; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics
chemical_list: D025542:Neurofibromin 1; D009692:Nucleic Acid Heteroduplexes; D011506:Proteins; D004247:DNA