Three new rare variants of ?1-Antitrypsin
- 1 September 1982
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 61 (2) , 123-126
- https://doi.org/10.1007/bf00274201
Abstract
Three new rare genetic variants of the serum protein α1-antitrypsin (α1-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 isoelectric 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 α1-antitrypsin, assayed both by functional and immunological methods.Keywords
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