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Article

Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.

Respiratory research - 6 Aug 2012

Bækvad-Hansen Marie, Nordestgaard Børge G, Dahl Morten

Abstract excerpt

BACKGROUND: Mutations in ATP-binding-cassette-member A3 (ABCA3) are related to severe chronic lung disease in neonates and children, but frequency of chronic lung disease due to ABCA3 mutations in the general population is unknown. We tested the hypothesis that individuals heterozygous for ABCA3 mutations have reduced lung function and increased risk of COPD in the general population. METHODS: We screened 760...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22866751
DOI: 10.1186/1465-9921-13-67
PMCID: PMC3514156

Genes

ABCA3

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