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Hum Genet. 1979;50(2):221-3.

PiT: a new allele in the alpha 1-antitrypsin system.

Abstract

In a genetic investigation of the population in Hessen, Germany, we found a family with a new, rare allele in the Pi system (alpha 1-antitrypsin). According to electrophoretic analysis and isoelectric focusing patterns, it is designated PiT. A pedigree study suggests autosomal codominant inheritance. The serum concentration of six heterozygous carriers of this allele (phenotype M1T or M2T) revealed normal alpha 1-antitrypsin levels.

PMID:
315909
[Indexed for MEDLINE]

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