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Article

Temperature gradient gel electrophoresis: rapid detection of alpha-1-antitrypsin deficiency carriers.

Electrophoresis - 1 May 1992

Hinney A, Luckenbach C, Ritter H

Abstract excerpt

The homozygous state of the alpha-1-antitrypsin (alpha 1AT) deficiency variant Z is associated with severe liver damage in early childhood and progressive lung emphysema in adulthood. A single base transition (G to A in codon 342) in exon V is causing the severe disease. The Glu342 to Lys342 mutation can be detected conventionally by isoelectric focusing (IEF) or on the DNA level by the newly developed method of...

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PMID: 1396522
DOI: 10.1002/elps.1150130158

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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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