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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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Publicado en:Sci Rep
Main Authors: Yu, Yinhui, Wu, Menghan, Chen, Xinyi, Zhu, Yanan, Gong, Xiaohua, Yao, Ke
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2016
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4877569/
https://ncbi.nlm.nih.gov/pubmed/27216975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep26551
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