The genetic landscape of crystallins in congenital cataract
(2020)
Journal Article
Berry, V., Ionides, A., Pontikos, N., Georgiou, M., Yu, J., Ocaka, L. A., …Michaelides, M. (2020). The genetic landscape of crystallins in congenital cataract. Orphanet Journal of Rare Diseases, 15, Article 333. https://doi.org/10.1186/s13023-020-01613-3
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 crystalli... Read More about The genetic landscape of crystallins in congenital cataract.