title: Study of a female patient with ornithine transcarbamylase deficiency: detection of a nonsense mutation.
authors.affiliation: Department of Biochemistry, Kumamoto University Medical School, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Hata
authors.forename: T
authors.initials: T
authors.lastname: Matsuura
authors.forename: C
authors.initials: C
authors.lastname: Setoyama
authors.forename: K
authors.initials: K
authors.lastname: Shimada
authors.forename: E
authors.initials: E
authors.lastname: Takeda
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroda
authors.forename: I
authors.initials: I
authors.lastname: Akaboshi
authors.forename: I
authors.initials: I
authors.lastname: Matsuda
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D004247:DNA / Q000096:biosynthesis; D003933:Diagnosis; D005091:Exons; D005260:Female; D005784:Gene Amplification; D006801:Humans; D009154:Mutation; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D013489:Suppression, Genetic
chemical_list: D004247:DNA