A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract

PURPOSE: To characterize the disease-causing mutations in four generations of a Chinese family affected with bilateral congenital nuclear and zonular pulverulent cataract. METHODS: Detailed family history and clinical data were recorded. The phenotype was documented using slit-lamp photography. Cand...

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Detalles Bibliográficos
Autores principales: Li, Jinyu, Wang, Qiwei, Fu, Qiuyue, Zhu, Yanan, Zhai, Yi, Yu, Yinhui, Zhang, Kai, Yao, Ke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626375/
https://www.ncbi.nlm.nih.gov/pubmed/23592913

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626375/
https://www.ncbi.nlm.nih.gov/pubmed/23592913

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