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...

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Detalles Bibliográficos
Autores principales: Li, Li, Fan, Da-Bei, Zhao, Ya-Ting, Li, Yun, Kong, De-Qian, Cai, Fang-Fei, Zheng, Guang-Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
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

Internet

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

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