title: A new disease-causing mutation in the GAP-related domain of the NF1 gene.
authors.affiliation: Laboratorio di Biologia Molecolare, Università di Padova, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Anglani
authors.forename: A
authors.initials: A
authors.lastname: Murgia
authors.forename: S
authors.initials: S
authors.lastname: Bedin
authors.forename: E
authors.initials: E
authors.lastname: Bresin
authors.forename: F
authors.initials: F
authors.lastname: Bernardi
authors.forename: M
authors.initials: M
authors.lastname: Clementi
authors.forename: R
authors.initials: R
authors.lastname: Tenconi
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D001665:Binding Sites / Q000235:genetics; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D020690:GTPase-Activating Proteins; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009456:Neurofibromatosis 1 / Q000235:genetics*; D011506:Proteins / Q000235:genetics*
chemical_list: D020690:GTPase-Activating Proteins; D011506:Proteins; D004247:DNA