Pathogenicity and functional analysis of CFAP410 mutations causing cone-rod dystrophy with macular staphyloma

BACKGROUND: Cone-rod dystrophy (CORD) caused by pathogenic variants in CFAP410 is a very rare disease. The mechanisms by which the variants caused the disease remained largely unknown. CFAP410 pathogenic variants were identified in a cone-rod dystrophy with macular staphyloma patient. We explored th...

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Detalles Bibliográficos
Autores principales: Yang, Shaoqing, Li, Ya, Yang, Lin, Guo, Qingge, You, Ya, Lei, Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601463/
https://www.ncbi.nlm.nih.gov/pubmed/37901396
http://dx.doi.org/10.3389/fmed.2023.1216427

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601463/
https://www.ncbi.nlm.nih.gov/pubmed/37901396
http://dx.doi.org/10.3389/fmed.2023.1216427

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