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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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Bibliografski detalji
Glavni autori: Li, Jinyu, Wang, Qiwei, Fu, Qiuyue, Zhu, Yanan, Zhai, Yi, Yu, Yinhui, Zhang, Kai, Yao, Ke
Format: Artigo
Jezik:Inglês
Izdano: Molecular Vision 2013
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Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3626375/
https://ncbi.nlm.nih.gov/pubmed/23592913
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