Article
A common Chinese beta-thalassemia mutation found in a Japanese family.
Human genetics - 1 Apr 1990
Naritomi Y, Nakashima H, Kagimoto M, Naito Y, Yokota E, Imamura T
Abstract excerpt
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.
Topics
- China
- DNA Probes
- Globins
- Humans
- Japan
- Male
- Middle Aged
- Mutation
- Polymorphism, Restriction Fragment Length
- Thalassemia