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Article

Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort.

The Journal of biological chemistry - 1 Jul 2024

Hallam Thomas M, Andreadi Anneliza, Sharp Scott J, Brocklebank Vicky, Gardenal Emanuela, Dreismann Anna, Lotery Andrew J, Marchbank Kevin J, Harris Claire L, Jones Amy V, Kavanagh David

Abstract excerpt

Rare variants (RVs) in the gene encoding the regulatory enzyme complement factor I (CFI; FI) that reduce protein function or levels increase age-related macular degeneration risk. A total of 3357 subjects underwent screening in the SCOPE natural history study for geographic atrophy secondary to age-related macular degeneration, including CFI sequencing and serum FI measurement. Eleven CFI RV genotypes that were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38852887
DOI: 10.1016/j.jbc.2024.107452
PMCID: PMC11277764

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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