Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden and lower antigenic levels in familial AMD
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Title
Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden and lower antigenic levels in familial AMD
Authors
Keywords
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Journal
Scientific Reports
Volume 6, Issue 1, Pages -
Publisher
Springer Nature
Online
2016-08-30
DOI
10.1038/srep31531
References
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Related references
Note: Only part of the references are listed.- Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels
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- A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function
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