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Article

Functional analysis of novel alpha-1 antitrypsin variants G320R and V321F.

Molecular biology reports - 1 Sept 2014

Ljujic Mila, Divac Rankov Aleksandra, Kojic Snezana, Miranda Elena, Radojkovic Dragica

Abstract excerpt

Alpha-1 antitrypsin (AAT) gene is highly polymorphic, with a large number of rare variants whose phenotypic consequences often remain inconclusive. Studies addressing functional characteristics of AAT variants are of significant biomedical importance since deficiency and dysfunctionality of AAT are associated with liver and lung diseases. We report the results of the functional analysis of two naturally occurring...

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PMID: 24969485
DOI: 10.1007/s11033-014-3492-z

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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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