title: A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient.
abstract: We report a case of neurofibromatosis (NF) 1 presenting as a C-to-T transition changing an Arg-1947 codon to a stop codon. Because this mutation has been described in multiple Caucasian and Japanese families, the codon CGA for Arg-1947 in the NF1 gene is considered to be a hotspot for mutation in neurofibromatosis type 1 in all ethnic groups.
authors.affiliation: Department of Dermatology, Seoul National University College of Medicine, Chongno-gu, Korea. kcpark@medicine.snu.ac.kr
authors.forename: K C
authors.initials: KC
authors.lastname: Park
authors.forename: H O
authors.initials: HO
authors.lastname: Choi
authors.forename: K H
authors.initials: KH
authors.lastname: Park
authors.forename: K H
authors.initials: KH
authors.lastname: Kim
authors.forename: H C
authors.initials: HC
authors.lastname: Eun
mesh_terms: D000328:Adult; D001120:Arginine / Q000235:genetics*; D001483:Base Sequence; D019080:Cafe-au-Lait Spots / Q000235:genetics; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007723:Korea; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D025542:Neurofibromin 1; D011506:Proteins; D001120:Arginine