title: Characterization of an intron 31 splice junction mutation in the neurofibromatosis type 1 (NF1) gene.
authors.affiliation: Child Health Research Institute, Children's Hospital of Western Ontario, London, Canada.
authors.forename: P
authors.initials: P
authors.lastname: Ainsworth
authors.forename: D
authors.initials: D
authors.lastname: Rodenhiser
authors.forename: A
authors.initials: A
authors.lastname: Stuart
authors.forename: J
authors.initials: J
authors.lastname: Jung
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics*
chemical_list: D018076:DNA, Complementary; D025542:Neurofibromin 1; D011506:Proteins; D012333:RNA, Messenger