Article
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
Human molecular genetics - 3 Feb 2022
de Jong Sarah, de Breuk Anita, Volokhina Elena B, Bakker Bjorn, Garanto Alejandro, Fauser Sascha, Katti Suresh, Hoyng Carel B, Lechanteur Yara T E, van den Heuvel Lambert P, den Hollander Anneke I
Abstract excerpt
Age-related macular degeneration (AMD) is a major cause of vision loss among the elderly in the Western world. Genetic variants in the complement factor H (CFH) gene are associated with AMD, but the functional consequences of many of these variants are currently unknown. In this study, we aimed to determine the effect of 64 rare and low-frequency variants in the CFH gene on systemic levels of factor H (FH) and...
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