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Article

Alpha(1)-antitrypsin deficiency, liver disease and emphysema.

The international journal of biochemistry & cell biology - 1 Jul 2003

Parfrey Helen, Mahadeva Ravi, Lomas David A

Abstract excerpt

alpha(1)-Antitrypsin is a member of the serine proteinase inhibitor (serpin) superfamily and a potent inhibitor of neutrophil elastase. The most important deficiency variant of alpha(1)-antitrypsin arises from the Z mutation (Glu342Lys). This mutation perturbs the protein's tertiary structure to promote a precise, sequential intermolecular linkage that results in polymer formation. These polymers accumulate...

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Identifiers

PMID: 12672469
DOI: 10.1016/s1357-2725(02)00250-9

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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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