Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals
Research output: Contribution to journal › Journal article › Research › peer-review
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.
Original language | English |
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Journal | Respiratory Research |
Volume | 13 |
Pages (from-to) | 67 |
ISSN | 1465-9921 |
DOIs | |
Publication status | Published - 2012 |
ID: 43958011