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Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12

BACKGROUND: Several regions of the genome have shown to be associated with COPD in genome-wide association studies of common variants. OBJECTIVE: To determine rare and potentially functional single nucleotide polymorphisms (SNPs) associated with the risk of COPD and severity of airflow limitation. M...

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Detalles Bibliográficos
Autores principales: Jackson, Victoria E, Ntalla, Ioanna, Sayers, Ian, Morris, Richard, Whincup, Peter, Casas, Juan-Pablo, Amuzu, Antoinette, Choi, Minkyoung, Dale, Caroline, Kumari, Meena, Engmann, Jorgen, Kalsheker, Noor, Chappell, Sally, Guetta-Baranes, Tamar, McKeever, Tricia M, Palmer, Colin N A, Tavendale, Roger, Holloway, John W, Sayer, Avan A, Dennison, Elaine M, Cooper, Cyrus, Bafadhel, Mona, Barker, Bethan, Brightling, Chris, Bolton, Charlotte E, John, Michelle E, Parker, Stuart G, Moffat, Miriam F, Wardlaw, Andrew J, Connolly, Martin J, Porteous, David J, Smith, Blair H, Padmanabhan, Sandosh, Hocking, Lynne, Stirrups, Kathleen E, Deloukas, Panos, Strachan, David P, Hall, Ian P, Tobin, Martin D, Wain, Louise V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4893124/
https://www.ncbi.nlm.nih.gov/pubmed/26917578
http://dx.doi.org/10.1136/thoraxjnl-2015-207876