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

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 mut...

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Hlavní autoři: Bækvad-Hansen, Marie, Nordestgaard, Børge G, Dahl, Morten
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2012
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3514156/
https://ncbi.nlm.nih.gov/pubmed/22866751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1465-9921-13-67
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