A rare penetrant mutation in CFH confers high risk of age-related macular degeneration

Two common variants within CFH, the Y402H(1–4) and the rs1410996 SNPs(5,6), explain 17% of age-related macular degeneration (AMD) liability. However, proof for the involvement of CFH, as opposed to a neighboring transcript, and the potential mechanism of susceptibility alleles are lacking. Assuming...

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Detalhes bibliográficos
Main Authors: Raychaudhuri, Soumya, Iartchouk, Oleg, Chin, Kimberly, Tan, Perciliz L., Tai, Albert, Ripke, Stephan, Gowrisankar, Sivakumar, Vemuri, Soumya, Montgomery, Kate, Yu, Yi, Reynolds, Robyn, Zack, Donald J., Campochiaro, Betsy, Campochiaro, Peter, Katsanis, Nicholas, Daly, Mark J., Seddon, Johanna M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3225644/
https://ncbi.nlm.nih.gov/pubmed/22019782
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.976
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