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A new, high frequency variant of α1-antitrypsin

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Summary

A new variant of α1-antitrypsin has been detected with the aid of isoelectric fucosing on polyacrylamide slab gels. In contrast with many other variants this new α1-antitrypsin allele is found in 10–15% of the phenotypes examined. The electrophoretic properties of the new α1-antitrypsin variant in isofocusing polyacrylamide gels differ only silightly from the most common α1-antitrypsin allele M. On the basis of its electroforetic behaviour we propose the term MN to indicate this new protease inhibitor variant. The isofocusing technique employed, provides an easy to handle, very reproducible method for determining the α1-antitrypsin phenotype and can be employed for large scale screening.

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van den Broek, W.G.M., Hoffmann, J.J.M.L. & Dijkman, J.H. A new, high frequency variant of α1-antitrypsin. Hum Genet 34, 17–22 (1976). https://doi.org/10.1007/BF00284429

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  • DOI: https://doi.org/10.1007/BF00284429

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