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% o...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- DNA
- Exons
- Genes
- Haplotypes
- Humans
- Molecular Sequence Data
- Mutation
- Phenotype
- Polymerase Chain Reaction
- alpha 1-Antitrypsin
