Abstract
THE α1-protease inhibitor (formerly α1-antitrypsin) is in herited by a series of autosomal codominant alleles that determine its concentration and electrophoretic mobility. Serum from individuals with severe α1-protease inhibitor deficiency usually contains an electrophoretically slow-moving α1-protease inhibitor (type ZZ) in an amount 10–40% of that found in the normal population (type MM). This deficient state is associated with either an early-onset form of familial emphysema or familial infantile cirrhosis1.
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References
Fagerhol, M. K., and Laurell, C. B., in Prog. med. Genet. (edit. by Steinberg, A. G., and Bearn, A. G.), VII, 96–111 (Grune and Stratton, New York, 1970).
Bell, O. F., and Carrell, R. W., Nature, 243, 410–411 (1973).
Cox, D. W., Lancet, ii, 844–845 (1973).
Kuhlenschmidt, M. S., et al., Lab. Invest., 31, 413–419 (1974).
Chan, S. K., Luby, J., and Wu, Y. C., FEBS Lett., 35, 79–82 (1973).
Fagerhol, M. K., and Laurell, C.-B., Clin. Chim. Acta, 16, 199–203 (1967).
Davis, B. J., Ann. N.Y. Acad. Sci., 121, 404–427 (1964).
Morell, A. G., Gregoriadis, G., Scheinberg, I. H., Hickman, J., and Ashwell, G., J. biol. Chem., 246, 1461–1467 (1971).
Hudgin, R. L., Pricer, W. E., Jr., Ashwell, G., Stockert, R. J., and Morell, A. G., J. biol. Chem., 249, 5536–5543 (1974).
Technicon Auto Analyzer Res. Bull., No. 10 (1966).
Lee, Y. C., McKelvy, J. F., and Lang, D., Analyt. Biochem., 27, 567–574 (1969).
Warren, L., J. biol. Chem., 234, 1971–1975 (1959).
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CHAN, S., REES, D. Molecular basis for the α1-protease inhibitor deficiency. Nature 255, 240–241 (1975). https://doi.org/10.1038/255240a0
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DOI: https://doi.org/10.1038/255240a0
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