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Hum Genet. 1992 Dec;90(4):457-9.

Genetic studies of antithrombin III with IEF and ASO hybridization.

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  • 1Institut für Anthropologie und Humangenetik der Universität, Tübingen, Federal Republic of Germany.


Antithrombin III (AT III) was analyzed by two different methods. Isoelectric focusing was used to screen 3 different populations (southwest Germans, Portuguese, Xavante Indians). The same variant was detected both in the German and the Portuguese populations with frequencies of 0.007 and 0.00024, respectively. Further characterization of this variant was performed by allele specific oligonucleotides. By this means, it was possible to identify the variant as AT III Dublin, originally found in 4 Irish families.

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