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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: 2011
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3225644/
https://www.ncbi.nlm.nih.gov/pubmed/22019782
http://dx.doi.org/10.1038/ng.976

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3225644/
https://www.ncbi.nlm.nih.gov/pubmed/22019782
http://dx.doi.org/10.1038/ng.976

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