title: Beta-thalassemia with the IVS-I-1 (G-->T) mutation in a Japanese girl.
abstract: We analyzed the hemoglobins of a Japanese girl with beta-thalassemia and those of her immediate family. DNA sequencing of the cloned beta-globin gene from this patient revealed a point mutation at the IVS-I position 1 (G-->T). This rare point mutation has been found in Asian Indians, but this is the first reported Japanese case.
authors.affiliation: Kochi Medical School, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Okada
authors.forename: T
authors.initials: T
authors.lastname: Tomoda
authors.forename: H
authors.initials: H
authors.lastname: Morita
authors.forename: H
authors.initials: H
authors.lastname: Wakiguchi
authors.forename: T
authors.initials: T
authors.lastname: Kurashige
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D007564:Japan; D008969:Molecular Sequence Data; D017354:Point Mutation; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins