PMID: 6982217Jan 1, 1982Paper

Three new rare variants of alpha 1-antitrypsin

Human Genetics
D W CoxG Billingsley

Abstract

Three new rare genetic variants of the serum protein alpha 1-antitrypsin (alpha 1-protease inhibitor) have been identified in a Caucasian population. The new alleles in the PI system are PI*EFRA, PT*PCAS, and PI*XALB. When compared with the normal type M by isolectric focusing in polyacrylamide, Efranklin (EFRA) is anodal, and Pcastoria (PCAS) and Xalban (XALB) are cathodal. These variants have been compared with previously described variants by isoelectric focusing and by electrophoresis in agarose and acid starch gels. All three variant alleles appear to be associated with normal amounts of alpha 1-antitrypsin, assayed both by functional and immunological methods.

References

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Citations

Jan 1, 1985·Human Genetics·Q L YingS S Liu
Jan 1, 1984·Human Genetics·Q L YingM L Zhang
Jan 1, 1997·American Journal of Human Biology : the Official Journal of the Human Biology Council·Maria FuciarelliGian Franco De Stefano
Jan 1, 1997·Research in Experimental Medicine. Zeitschrift Für Die Gesamte Experimentelle Medizin Einschliesslich Experimenteller Chirurgie·L CookJ M Hunt
Mar 1, 1991·Annals of Saudi Medicine·A S WarsyM Kinhal
Jun 24, 1988·The American Journal of Medicine·M BrantlyR G Crystal

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