Basal Laminar Drusen Caused by Compound Heterozygous Variants in the CFH Gene

Age-related macular degeneration (AMD) is a multifactorial disease that is strongly associated with the Tyr402His variant in the complement factor H (CFH) gene. Drusen are hallmark lesions of AMD and consist of focal-inflammatory and/or immune-mediated depositions of extracellular material at the in...

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Main Authors: Boon, Camiel J.F., Klevering, B. Jeroen, Hoyng, Carel B., Zonneveld-Vrieling, Marijke N., Nabuurs, Sander B., Blokland, Ellen, Cremers, Frans P.M., den Hollander, Anneke I.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2008
Teme:
Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427272/
https://ncbi.nlm.nih.gov/pubmed/18252232
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2007.11.007
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