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Article

A novel method for rapid genotypic identification of alpha 1-antitrypsin variants.

Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Sept 2004

Ferrarotti Ilaria, Zorzetto Michele, Scabini Roberta, Mazzola Paola, Campo Ilaria, Luisetti Maurizio

Abstract excerpt

There is worldwide growing awareness of alpha 1-antitrypsin deficiency (AATD), a major hereditary disorder in Caucasians. The gold standard for laboratory diagnosis of AATD is thin-layer isoelectrofocusing (IEF), which is labor intensive and should be performed in reference laboratories. The aim of this study was to find an easy, fast, and cheap method for detecting alpha1-antitrypsin S and Z variants, the most...

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PMID: 15322427
DOI: 10.1097/01.pdm.0000128700.22128.80

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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