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Two novel mutations identified in ADCC families impair crystallin protein distribution and induce apoptosis in human lens epithelial cells
Congenital cataract (CC) is a clinical and genetically heterogeneous eye disease that primarily causes lens disorder and even amblyopic blindness in children. As the mechanism underlying CC is genetically inherited, identification of CC-associated gene mutations and their role in protein distributio...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5736644/ https://www.ncbi.nlm.nih.gov/pubmed/29259299 http://dx.doi.org/10.1038/s41598-017-18222-z |