A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration

Complement factor H shows very strong association with Age-related Macular Degeneration (AMD), and recent data suggest that multiple causal variants are associated with disease. To refine the location of the disease associated variants, we characterized in detail the structural variation at CFH and...

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Detalles Bibliográficos
Autores principales: Sivakumaran, Theru A., Igo, Robert P., Kidd, Jeffrey M., Itsara, Andy, Kopplin, Laura J., Chen, Wei, Hagstrom, Stephanie A., Peachey, Neal S., Francis, Peter J., Klein, Michael L., Chew, Emily Y., Ramprasad, Vedam L., Tay, Wan-Ting, Mitchell, Paul, Seielstad, Mark, Stambolian, Dwight E., Edwards, Albert O., Lee, Kristine E., Leontiev, Dmitry V., Jun, Gyungah, Wang, Yang, Tian, Liping, Qiu, Feiyou, Henning, Alice K., LaFramboise, Thomas, Sen, Parveen, Aarthi, Manoharan, George, Ronnie, Raman, Rajiv, Das, Manmath Kumar, Vijaya, Lingam, Kumaramanickavel, Govindasamy, Wong, Tien Y., Swaroop, Anand, Abecasis, Goncalo R., Klein, Ronald, Klein, Barbara E. K., Nickerson, Deborah A., Eichler, Evan E., Iyengar, Sudha K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3192039/
https://www.ncbi.nlm.nih.gov/pubmed/22022419
http://dx.doi.org/10.1371/journal.pone.0025598

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