Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2

A combined genome-wide association and linkage study was used to identify loci causing variation in CF lung disease severity. A significant association (P=3. 34 × 10(-8)) near EHF and APIP (chr11p13) was identified in F508del homozygotes (n=1,978). The association replicated in F508del homozygotes (...

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Autores principales: Wright, Fred A., Strug, Lisa J., Doshi, Vishal K., Commander, Clayton W., Blackman, Scott M., Sun, Lei, Berthiaume, Yves, Cutler, David, Cojocaru, Andreea, Collaco, J. Michael, Corey, Mary, Dorfman, Ruslan, Goddard, Katrina, Green, Deanna, Kent, Jack W., Lange, Ethan M., Lee, Seunggeun, Li, Weili, Luo, Jingchun, Mayhew, Gregory M., Naughton, Kathleen M., Pace, Rhonda G., Paré, Peter, Rommens, Johanna M., Sandford, Andrew, Stonebraker, Jaclyn R., Sun, Wei, Taylor, Chelsea, Vanscoy, Lori L., Zou, Fei, Blangero, John, Zielenski, Julian, O’Neal, Wanda K., Drumm, Mitchell L., Durie, Peter R., Knowles, Michael R., Cutting, Garry R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2011
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3296486/
https://www.ncbi.nlm.nih.gov/pubmed/21602797
http://dx.doi.org/10.1038/ng.838

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