Complement factor B is critical for sub-RPE deposit accumulation in a model of Doyne honeycomb retinal dystrophy with features of age-related macular degeneration

EFEMP1 R345W is a dominant mutation causing Doyne honeycomb retinal dystrophy/malattia leventinese (DHRD/ML), a rare blinding disease with clinical pathology similar to age-related macular degeneration (AMD). Aged Efemp1  (R345W/R345W) knock-in mice (Efemp1(ki/ki)) develop microscopic deposits on th...

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Detalles Bibliográficos
Autores principales: Crowley, Maura A, Garland, Donita L, Sellner, Holger, Banks, Angela, Fan, Lin, Rejtar, Tomas, Buchanan, Natasha, Delgado, Omar, Xu, Yong Yao, Jose, Sandra, Adams, Christopher M, Mogi, Muneto, Wang, Karen, Bigelow, Chad E, Poor, Stephen, Anderson, Karen, Jaffee, Bruce D, Prasanna, Ganesh, Grosskreutz, Cynthia, Fernandez-Godino, Rosario, Pierce, Eric A, Dryja, Thaddeus P, Liao, Sha-Mei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9840207/
https://www.ncbi.nlm.nih.gov/pubmed/35943778
http://dx.doi.org/10.1093/hmg/ddac187

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