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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 |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Nature Publishing Group
2016
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| Assuntos: | |
| 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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