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Article

Functional basis of protection against age-related macular degeneration conferred by a common polymorphism in complement factor B

2 Mar 2009

Abstract excerpt

Mutations and polymorphisms in complement genes have been linked with numerous rare and prevalent disorders, implicating dysregulation of complement in pathogenesis. The 3 common alleles of factor B (fB) encode Arg (fB(32R)), Gln (fB(32Q)), or Trp (fB(32W)) at position 32 in the Ba domain. The fB(32Q) allele is protective for age-related macular degeneration, the commonest cause of blindness in developed...

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PMID: 19255449
DOI: 10.1073/pnas.0812584106

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