Condition: MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
rs121913059 in
CFH gene and
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
PMID 25814826 2015 Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration.
PMID 22019782 2011 A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
PMID 24036949 2013 Identification of a rare coding variant in complement 3 associated with age-related macular degeneration.
PMID 12697737 2003 Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome.
PMID 24498017 2014 Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration.