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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2016
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Materias: | |
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 |