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Article

A Library of Rare α1-Antitrypsin (AAT) Variant Phenotypes to Aid in the Diagnosis of AAT Deficiency.

American journal of clinical pathology - 1 Sept 2016

Akbas Neval, Gonzalez Graciela, Buffone Gregory J, Grenache David G, Devaraj Sridevi

Abstract excerpt

OBJECTIVES: α1-Antitrypsin (AAT) deficiency is a hereditary disorder due to defective production of the serine protease inhibitor, AAT, which can cause lung and liver diseases. Severity of disease depends particularly on the phenotypic representation of AAT variants in the patient. METHODS: In this study, we present determination of seven common and nine rare variant phenotypes of AAT using pediatric samples...

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PMID: 27543976
DOI: 10.1093/ajcp/aqw112

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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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