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Article

Laboratory diagnosis of alpha1-antitrypsin deficiency.

Translational research : the journal of laboratory and clinical medicine - 1 Nov 2007

Ferrarotti Ilaria, Scabini Roberta, Campo Ilaria, Ottaviani Stefania, Zorzetto Michele, Gorrini Marina, Luisetti Maurizio

Abstract excerpt

The laboratory diagnosis of alpha(1)-antitrypsin (AAT) deficiency (AATD) has evolved over the last 40 years since the first cases of the disorder were reported. It is currently performed in specialized centers, and it requires a combination of different biochemical methods: nephelometric AAT concentration, isoelectric focusing, genotyping, and sequencing. The availability of matrices such as the dried blood spot...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17964515
DOI: 10.1016/j.trsl.2007.08.001

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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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