A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family

PURPOSE: To identify the genetic defect associated with autosomal dominant congenital cataract (ADCC) in a Chinese family, in which 11 individuals across four generations are affected with coralliform cataract. METHODS: Exome sequencing was performed in two of the ADCC-affected family members to sca...

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Detalles Bibliográficos
Autores principales: Zhou, Dingan, Ji, Hongyun, Wei, Zhiyun, Guo, Luo, Li, Yanpeng, Wang, Teng, Zhu, Yu, Dong, Xingran, Wang, Yang, He, Lin, Xing, Qinghe, Zhang, Lirong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626289/
https://www.ncbi.nlm.nih.gov/pubmed/23592915

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