TY - JOUR
T1 - Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals
AU - Bækvad-Hansen, Marie
AU - Nordestgaard, Børge G
AU - Dahl, Morten
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
U2 - 10.1186/1465-9921-13-67
DO - 10.1186/1465-9921-13-67
M3 - Journal article
C2 - 22866751
SN - 1465-9921
VL - 13
SP - 67
JO - Respiratory Research
JF - Respiratory Research
ER -