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Article

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

Journal of neuroinflammation - 5 Jan 2017

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

Abstract excerpt

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 the ARMS2 protein, the exact cellular sources in the retina and the biological consequences of the rs10490924...

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Identifiers

PMID: 28086806
DOI: 10.1186/s12974-016-0776-3
PMCID: PMC5234120

Genes

ARMS2

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