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Age-related macular degeneration associated polymorphism rs10490924 in ARMS2 results in deficiency of a complement activator

BACKGROUND: Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. The polymorphism rs10490924 in the ARMS2 gene is highly associated with AMD and linked to an indel mutation (del443ins54), the latter inducing mRNA instability. At present, the function of th...

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Detalles Bibliográficos
Autores principales: Micklisch, Sven, Lin, Yuchen, Jacob, Saskia, Karlstetter, Marcus, Dannhausen, Katharina, Dasari, Prasad, von der Heide, Monika, Dahse, Hans-Martin, Schmölz, Lisa, Grassmann, Felix, Alene, Medhanie, Fauser, Sascha, Neumann, Harald, Lorkowski, Stefan, Pauly, Diana, Weber, Bernhard H., Joussen, Antonia M., Langmann, Thomas, Zipfel, Peter F., Skerka, Christine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5234120/
https://www.ncbi.nlm.nih.gov/pubmed/28086806
http://dx.doi.org/10.1186/s12974-016-0776-3