Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD

The genetic architecture of age-related macular degeneration (AMD) involves numerous genetic variants, both common and rare, in the coding region of complement factor H (CFH). While these variants explain high disease burden in some families, they fail to explain the pathology in all. We selected fa...

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Detalles Bibliográficos
Autores principales: Wagner, Erin K., Raychaudhuri, Soumya, Villalonga, Mercedes B., Java, Anuja, Triebwasser, Michael P., Daly, Mark J., Atkinson, John P., Seddon, Johanna M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5004131/
https://www.ncbi.nlm.nih.gov/pubmed/27572114
http://dx.doi.org/10.1038/srep31531

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