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.
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