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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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Detalles Bibliográficos
Autores principales: Bækvad-Hansen, Marie, Nordestgaard, Børge G, Dahl, Morten
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3514156/
https://www.ncbi.nlm.nih.gov/pubmed/22866751
http://dx.doi.org/10.1186/1465-9921-13-67