A common Chinese ?-thalassemia mutation found in a Japanese family

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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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  • Human Genetics

    Human Genetics 84 1990-04-01

    Springer Science and Business Media LLC

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