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Article

Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PIQ0 alleles and one deficient PIM allele.

American journal of human genetics - 1 Dec 1994

Faber J P, Poller W, Weidinger S, Kirchgesser M, Schwaab R, Bidlingmaier F, Olek K

Abstract excerpt

We have investigated the molecular basis of 15 new alpha 1-antitrypsin (alpha 1AT) variants. Phenotyping by isoelectric focusing (IEF) was used as a screening method to detect alpha 1AT variants at the protein level. Genotyping was then performed by sequence analysis of all coding exons, exon-intron junctions, and the hepatocyte-specific promoter region including exon Ic. Three of these rare variants are alleles...

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PMID: 7977369
PMCID: PMC1918455

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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