Article
The spectrum of phenotypes caused by variants in the CFH gene.
Molecular immunology - 1 May 2009
Boon Camiel J F, van de Kar Nicole C, Klevering B Jeroen, Keunen Jan E E, Cremers Frans P M, Klaver Caroline C W, Hoyng Carel B, Daha Mohamed R, den Hollander Anneke I
Abstract excerpt
Complement factor H (CFH) is a complement inhibitor, which is present as a soluble protein and attached to cell surfaces throughout the human body. As such, CFH is a key player in complement homeostasis, inhibiting excessive activation of the complement cascade, with an emphasis on the alternative pathway. The significance of CFH is demonstrated by the broad range of phenotypes associated with specific CFH gene...
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