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A common Chinese beta-thalassemia mutation found in a Japanese family
Y Naritomi1, H Nakashima, M Kagimoto
1First Department of Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Human Genetics
|April 1, 1990
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.