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Article

Rapid analysis of alpha1-antitrypsin PiZ genotype by a real-time PCR approach.

Journal of molecular medicine (Berlin, Germany) - 1 Jan 2000

Ortiz-Pallardó M E, Zhou H, Fischer H P, Neuhaus T, Sachinidis A, Vetter H, Brüning T, Ko Y

Abstract excerpt

alpha1-Antitrypsin (AAT) deficiency is a common inherited cause of emphysema and cirrhotic liver disease. Current laboratory diagnosis of Pi (proteinase inhibitor) status by protein analysis depends on the availability of blood samples and has a limited accuracy. Single-strand conformational polymorphism (SSCP) analysis and direct DNA sequencing can be performed from blood cells or from tissue samples, but it is...

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PMID: 10933583
DOI: 10.1007/s001090000103

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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