Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele.

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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-int...

Topics

Alleles
Base Sequence
Female
Genetic Variation
Genotype
Humans
Male
Models, Genetic
Molecular Sequence Data
Pedigree
Phenotype
Polymerase Chain Reaction
Sequence Analysis, DNA
alpha 1-Antitrypsin

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Identifiers

PMID: 7977369
PMCID: PMC1918455

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7977369-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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