Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen

PURPOSE: To characterize the molecular mechanism underpinning early-onset macular drusen (EOMD), a phenotypically severe subtype of age-related macular degeneration (AMD), in a subgroup of patients. DESIGN: Multicenter case series, in vitro experimentation, and retrospective analysis of previously r...

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Detalles Bibliográficos
Autores principales: Taylor, Rachel L., Poulter, James A., Downes, Susan M., McKibbin, Martin, Khan, Kamron N., Inglehearn, Chris F., Webster, Andrew R., Hardcastle, Alison J., Michaelides, Michel, Bishop, Paul N., Clark, Simon J., Black, Graeme C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856713/
https://www.ncbi.nlm.nih.gov/pubmed/30905644
http://dx.doi.org/10.1016/j.ophtha.2019.03.013

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