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Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts

Autosomal dominant congenital cataracts (ADCC) are clinically and genetically heterogeneous diseases. The present study recruited two Chinese families with bilateral nuclear cataract or zonular pulverulent phenotype. Direct sequencing of candidate genes identified two novel missense mutations of Cx5...

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Detalles Bibliográficos
Autores principales:	Yu, Yinhui, Wu, Menghan, Chen, Xinyi, Zhu, Yanan, Gong, Xiaohua, Yao, Ke
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4877569/ https://www.ncbi.nlm.nih.gov/pubmed/27216975 http://dx.doi.org/10.1038/srep26551

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