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Article

Deficiency Mutations of Alpha-1 Antitrypsin. Effects on Folding, Function, and Polymerization.

American journal of respiratory cell and molecular biology - 1 Jan 2016

Haq Imran, Irving James A, Saleh Aarash D, Dron Louis, Regan-Mochrie Gemma L, Motamedi-Shad Neda, Hurst John R, Gooptu Bibek, Lomas David A

Abstract excerpt

Misfolding, polymerization, and defective secretion of functional alpha-1 antitrypsin underlies the predisposition to severe liver and lung disease in alpha-1 antitrypsin deficiency. We have identified a novel (Ala336Pro, Baghdad) deficiency variant and characterized it relative to the wild-type (M) and Glu342Lys (Z) alleles. The index case is a homozygous individual of consanguineous parentage, with levels of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 26091018
DOI: 10.1165/rcmb.2015-0154OC
PMCID: PMC4742932

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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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