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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...
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| 發表在: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BioMed Central
2020
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| 主題: | |
| 在線閱讀: | 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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