title: Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease.
abstract: We report the mutation analysis of a Japanese patient diagnosed with infantile-type Alexander disease. The genetic analysis revealed a new missense mutation, an A to G transition at nucleotide position 1026 in exon 6, leading to the substitution of glycine for glutamic acid at amino acid position 371(E371G). This mutation was not detected in 50 Japanese controls using denaturing high-performance liquid chromatography.
authors.affiliation: Department of Developmental Medicine, Pediatrics, D-5 Osaka University Graduate School of Medicine, 2-2 Yamadaoka Suita, Osaka, Japan.
authors.forename: Masanobu
authors.initials: M
authors.lastname: Kawai
authors.forename: Norio
authors.initials: N
authors.lastname: Sakai
authors.forename: Susumu
authors.initials: S
authors.lastname: Miyake
authors.forename: Hiroko
authors.initials: H
authors.lastname: Tsukamoto
authors.forename: Motohiro
authors.initials: M
authors.lastname: Akagi
authors.forename: Koji
authors.initials: K
authors.lastname: Inui
authors.forename: Sotaro
authors.initials: S
authors.lastname: Mushiake
authors.forename: Masako
authors.initials: M
authors.lastname: Taniike
authors.forename: Keiichi
authors.initials: K
authors.lastname: Ozono
mesh_terms: D038261:Alexander Disease / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D002648:Child; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D018698:Glutamic Acid / Q000235:genetics; D005998:Glycine / Q000235:genetics; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging / Q000379:methods; D009154:Mutation
chemical_list: D005904:Glial Fibrillary Acidic Protein; D018698:Glutamic Acid; D005998:Glycine