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Published May 15, 1975 | public
Journal Article

Molecular Basis for the α_1-Protease Inhibitor Deficiency

Abstract

The α_1-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 α_1-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 cirrhosis.

Additional Information

© 1975 Nature Publishing Group. Received January 27; revised April 2, 1975. This research was supported by a grant from the National Institutes of Health. We thank Drs R. Talamo and J. Pierce for performing the electrophoresis in their laboratories and for providing serum from ZZ individuals.

Additional details

Created:
August 19, 2023
Modified:
October 20, 2023