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Article

A novel SERPINA1 mutation causing serum alpha(1)-antitrypsin deficiency.

PloS one - 1 Jan 2012

Saunders Darren N, Tindall Elizabeth A, Shearer Robert F, Roberson Jacquelyn, Decker Amy, Wilson Jean Amos, Hayes Vanessa M

Abstract excerpt

Mutations in the SERPINA1 gene can cause deficiency in the circulating serine protease inhibitor α(1)-Antitrypsin (α(1)AT). α(1)AT deficiency is the major contributor to pulmonary emphysema and liver disease in persons of European ancestry, with a prevalence of 1 in 2500 in the USA. We present the discovery and characterization of a novel SERPINA1 mutant from an asymptomatic Middle Eastern male with circulating...

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Open in PubMed Open full text

Identifiers

PMID: 23251618
DOI: 10.1371/journal.pone.0051762
PMCID: PMC3520848

Genes

SERPINA1

Provenance

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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