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Article

Haplotypes of the alpha-1 antitrypsin gene in healthy controls and Z deficiency patients.

Human mutation - 1 Dec 2004

Chappell Sally, Guetta-Baranés Tamar, Batowski Kathryn, Yiannakis Eftihia, Morgan Kevin, O'Connor Clare, MacNee William, Kalsheker Noor

Abstract excerpt

Alpha-1 antitrypsin (AAT; HUGO symbol, SERPINA1) is one of the major serine protease inhibitors (serpins) in human plasma. Deficiency of AAT is a recognised risk factor for chronic obstructive pulmonary disease (COPD), attributed to uninhibited neutrophil elastase released into the lung tissue during inflammatory states. In this study we used sequencing to screen the exonic regions, 5' and 3' flanking sequence of...

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PMID: 15532029
DOI: 10.1002/humu.9294

Genes

SERPINA1

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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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