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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 no: | Sci Rep |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | 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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