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Article

A polymorphism of the alpha1-antitrypsin gene represents a risk factor for liver disease.

Hepatology (Baltimore, Md.) - 1 Jan 2008

Chappell Sally, Hadzic Nedim, Stockley Robert, Guetta-Baranes Tamar, Morgan Kevin, Kalsheker Noor

Abstract excerpt

UNLABELLED: Alpha(1)-antitrypsin deficiency (AATD) due to homozygosity of the protease inhibitor (Pi) Z variant predisposes to childhood liver disease and pulmonary emphysema. About 10% of all neonates with AATD develop liver disease, and about 3% overall progress to severe disease. AATD is a principal genetic indication for liver transplantation in children. The liver pathology is associated with accumulation of...

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Identifiers

PMID: 17972336
DOI: 10.1002/hep.21979

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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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