title: Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
authors.affiliation: Department of Medical Genetics, Box 134, Addenbrooke's Hospital, Cambridge, UK.
authors.forename: C
authors.initials: C
authors.lastname: Mattocks
authors.forename: D
authors.initials: D
authors.lastname: Baralle
authors.forename: P
authors.initials: P
authors.lastname: Tarpey
authors.forename: C
authors.initials: C
authors.lastname: ffrench-Constant
authors.forename: M
authors.initials: M
authors.lastname: Bobrow
authors.forename: J
authors.initials: J
authors.lastname: Whittaker
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods*; D005091:Exons; D020690:GTPase-Activating Proteins / Q000737:chemistry; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000175:diagnosis*; D025542:Neurofibromin 1 / Q000737:chemistry; D011110:Polymorphism, Genetic; D017434:Protein Structure, Tertiary
chemical_list: D020690:GTPase-Activating Proteins; D025542:Neurofibromin 1