The genetic landscape of crystallins in congenital cataract

BACKGROUND: The crystalline lens is mainly composed of a large family of soluble proteins called the crystallins, which are responsible for its development, growth, transparency and refractive index. Disease-causing sequence variants in the crystallins are responsible for nearly 50% of all non-syndr...

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Detalles Bibliográficos
Publicado en:Orphanet J Rare Dis
Autores principales: Berry, Vanita, Ionides, Alex, Pontikos, Nikolas, Georgiou, Michalis, Yu, Jing, Ocaka, Louise A., Moore, Anthony T., Quinlan, Roy A., Michaelides, Michel
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7691105/
https://ncbi.nlm.nih.gov/pubmed/33243271
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01613-3
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