Associated Papers
Phenotypic Expression of CFH Rare Variants in Age-Related Macular Degeneration Patients in the Coimbra Eye Study.
Farinha C et al.
Investigative Ophthalmology & Visual Science, 2022
35925583 (PubMed )
Supplement: iovs-63-9-5_s002.pdf
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
de Jong S et al.
Human Molecular Genetics, 2022
34508573 (PubMed )
Supplement: supp_table_1_ddab256.xlsx › individual_variants
Analysis of hemopexin plasma levels in patients with age-related macular degeneration.
Lauwen S et al.
Molecular Vision, 2022
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Martín Merinero H et al.
Blood, 2021
Genetic Risk in Families with Age-Related Macular Degeneration.
de Breuk A et al.
Ophthalmology Science, 2021
36246952 (PubMed )
Supplement: mmc7.pdf
Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.
Geerlings MJ et al.
Clinical Genetics, 2018
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