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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691105/ https://www.ncbi.nlm.nih.gov/pubmed/33243271 http://dx.doi.org/10.1186/s13023-020-01613-3 |