title: Six novel mutations in the NF2 tumor suppressor gene.
abstract: Six novel mutations were identified in the NF2 tumor suppressor gene in a panel of meningiomas and neurinomas. Screening was performed using a combination of single-strand conformation polymorphism and heteroduplex analyses on polymerase chain reaction-amplified DNA from tumors and matched peripheral blood lymphocytes. Mutations involved exons 2, 7, 11 and 12, and corresponded to three frameshift, one nonsense, one missense and one polymorphism.
authors.affiliation: Instituto de Investigaciones Biomedicas (CSIC), Madrid, Spain.
authors.forename: P E
authors.initials: PE
authors.lastname: Leone
authors.forename: M J
authors.initials: MJ
authors.lastname: Bello
authors.forename: M
authors.initials: M
authors.lastname: Mendiola
authors.forename: J
authors.initials: J
authors.lastname: Vaquero
authors.forename: J L
authors.initials: JL
authors.lastname: Sarasa
authors.forename: M E
authors.initials: ME
authors.lastname: Kusak
authors.forename: J M
authors.initials: JM
authors.lastname: De Campos
authors.forename: A
authors.initials: A
authors.lastname: Pestana
authors.forename: J A
authors.initials: JA
authors.lastname: Rey
mesh_terms: D002869:Chromosome Aberrations; D016147:Genes, Tumor Suppressor; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D025581:Neurofibromin 2; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D008565:Membrane Proteins; D025581:Neurofibromin 2