title: Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene.
authors.affiliation: Duncan Guthrie Institute of Medical Genetics, University of Glasgow, Yorkhill, UK.
authors.forename: S M
authors.initials: SM
authors.lastname: Purandare
authors.forename: W G
authors.initials: WG
authors.lastname: Lanyon
authors.forename: R
authors.initials: R
authors.lastname: Arngrimsson
authors.forename: J M
authors.initials: JM
authors.lastname: Connor
mesh_terms: D000328:Adult; D001483:Base Sequence; D017931:DNA Primers; D005260:Female; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D012326:RNA Splicing
chemical_list: D017931:DNA Primers