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

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. F. , make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference and make_name_string expected hash reference (2017) Age-related macular degeneration associated polymorphism rs10490924 in ARMS2 results in deficiency of a complement activator. Journal of Neuroinflammation 14 (4).

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Date of publication of this fulltext: 27 Jan 2017 14:50

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Other URL: http://doi.org/10.1186/s12974-016-0776-3

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Abstract

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 ...

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Item type:Article
Date:2017
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1186/s12974-016-0776-3DOI
28086806PubMed ID
Keywords:APOPTOTIC CELLS; PROPERDIN BINDS; MESSENGER-RNA; HIGH-RISK; VARIANT; RARE; EXPRESSION; REGULATORS; DISEASE; CONFERS;
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:35107
Owner only: item control page

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