title: A common Chinese beta-thalassemia mutation found in a Japanese family.
abstract: We have identified the substitution of a thymine for a cytosine at nucleotide position 654 in the second intron of the beta-globin gene that causes beta-thalassemia in a Japanese family. This mutation was reported to occur rather frequently in patients of Chinese origin, but has rarely been found in other ethnic groups.
authors.affiliation: First Department of Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Naritomi
authors.forename: H
authors.initials: H
authors.lastname: Nakashima
authors.forename: M
authors.initials: M
authors.lastname: Kagimoto
authors.forename: Y
authors.initials: Y
authors.lastname: Naito
authors.forename: E
authors.initials: E
authors.lastname: Yokota
authors.forename: T
authors.initials: T
authors.lastname: Imamura
mesh_terms: D002681:China; D015342:DNA Probes; D005914:Globins / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D013789:Thalassemia / Q000208:ethnology / Q000235:genetics*
chemical_list: D015342:DNA Probes; D005914:Globins