Mutation in the 3' region of the alpha-1-antitrypsin gene and chronic obstructive pulmonary disease.

doi:10.1136/jmg.34.10.874

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Article

Mutation in the 3' region of the alpha-1-antitrypsin gene and chronic obstructive pulmonary disease.

Journal of medical genetics - 1 Oct 1997

Sandford A J, Spinelli J J, Weir T D, Paré P D

Abstract excerpt

A mutation in the 3' flanking region of the alpha-1-antitrypsin gene has been reported to be associated with chronic obstructive pulmonary disease (COPD). We have investigated the prevalence of this mutation in a group of 185 patients with airway obstruction and in 69 non-obstructed controls. The subjects were selected on the basis of their development of lung cancer and therefore had similar exposure to...

Topics

Female
Genetic Heterogeneity
Heterozygote
Humans
Lung Diseases, Obstructive
Male
Middle Aged
Mutation
Phenotype
Risk Factors
alpha 1-Antitrypsin

Source

Open in PubMed Open full text

Identifiers

PMID: 9350828
DOI: 10.1136/jmg.34.10.874
PMCID: PMC1051102

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