A Missense Mutation in CRYBB2 Leads to Progressive Congenital Membranous Cataract by Impacting the Solubility and Function of βB2-Crystallin

Congenital cataract is a major cause of visual impairment and childhood blindness. The solubility and stability of crystallin proteins play critical roles in maintaining the optical transparency of the lens during the life span. Previous studies have shown that approximately 8.3%∼25% of congenital c...

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Detalles Bibliográficos
Autores principales: Chen, Weirong, Chen, Xiaoyun, Hu, Zhengmao, Lin, Haotian, Zhou, Fengqi, Luo, Lixia, Zhang, Xinyu, Zhong, Xiaojian, Yang, Ye, Wu, Changrui, Lin, Zhuoling, Ye, Shaobi, Liu, Yizhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3842955/
https://www.ncbi.nlm.nih.gov/pubmed/24312286
http://dx.doi.org/10.1371/journal.pone.0081290

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3842955/
https://www.ncbi.nlm.nih.gov/pubmed/24312286
http://dx.doi.org/10.1371/journal.pone.0081290

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