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Article

Alpha 1-antitrypsin deficiency alleles in cystic fibrosis lung disease.

American journal of respiratory cell and molecular biology - 1 Sept 2003

Frangolias Despina D, Ruan Jian, Wilcox Pearce J, Davidson A George F, Wong Lawrence T K, Berthiaume Yves, Hennessey Rosamund, Freitag Andreas, Pedder Linda, Corey Mary, Sweezey Neil, Zielenski Julian, Tullis Elizabeth, Sandford Andrew J

Abstract excerpt

Cystic fibrosis (CF) transmembrane conductance regulator (CFTR) genotype does not explain the heterogeneity observed in CF pulmonary disease severity. Modifier genes are implicated for this heterogeneity. alpha1-antitrypsin (alpha1-AT) is one of the few antiproteases capable of inactivating neutrophil elastase. We investigated whether alpha1-AT alleles (Z, S deficiency alleles and the 3' G1237-->A mutation) were...

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Identifiers

PMID: 12689922
DOI: 10.1165/rcmb.2002-0271OC

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CFTR

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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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