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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Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2011
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3192039/
https://ncbi.nlm.nih.gov/pubmed/22022419
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0025598
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