Article
Sequence data of the rare deficient alpha 1-antitrypsin variant PI Zaugsburg.
American journal of human genetics - 1 Jun 1990
Faber J P, Weidinger S, Olek K
Abstract excerpt
Weidinger et al. recognized a rare deficient PI-variant, named PI Zaugsburg (PI Zaug), by using isoelectric focusing with a narrow pH gradient. The serum alpha 1-antitrypsin (alpha 1AT) level determined quantitatively in an individual carrying the phenotype PI M1Zaug revealed a value of 50%-60% of the normal range. The frequency of the deficient PI*Zaug allele is still unknown. Haplotyping the Zaug-affected...
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