Accounting for population structure in genetic studies of cystic fibrosis

CFTR F508del (c.1521_1523delCTT, p.Phe508delPhe) is the most common pathogenic allele underlying cystic fibrosis (CF), and its frequency varies in a geographic cline across Europe. We hypothesized that genetic variation associated with this cline is overrepresented in a large cohort (N > 5,000) o...

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Detalles Bibliográficos
Autores principales: Kingston, Hanley, Stilp, Adrienne M., Gordon, William, Broome, Jai, Gogarten, Stephanie M., Ling, Hua, Barnard, John, Dugan-Perez, Shannon, Ellinor, Patrick T., Gabriel, Stacey, Germer, Soren, Gibbs, Richard A., Gupta, Namrata, Rice, Kenneth, Smith, Albert V., Zody, Michael C., Blackman, Scott M., Cutting, Garry, Knowles, Michael R., Zhou, Yi-Hui, Rosenfeld, Margaret, Gibson, Ronald L., Bamshad, Michael, Fohner, Alison, Blue, Elizabeth E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9136666/
https://www.ncbi.nlm.nih.gov/pubmed/35647563
http://dx.doi.org/10.1016/j.xhgg.2022.100117

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9136666/
https://www.ncbi.nlm.nih.gov/pubmed/35647563
http://dx.doi.org/10.1016/j.xhgg.2022.100117

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