Identification of a Novel GJA8 (Cx50) Point Mutation Causes Human Dominant Congenital Cataracts

Hereditary cataracts are clinically and genetically heterogeneous lens diseases that cause a significant proportion of visual impairment and blindness in children. Human cataracts have been linked with mutations in two genes, GJA3 and GJA8, respectively. To identify the causative mutation in a famil...

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Detalles Bibliográficos
Autores principales: Ge, Xiang-Lian, Zhang, Yilan, Wu, Yaming, LV, Jineng, Zhang, Wei, Jin, Zi-Bing, Qu, Jia, Gu, Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927206/
https://www.ncbi.nlm.nih.gov/pubmed/24535056
http://dx.doi.org/10.1038/srep04121

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927206/
https://www.ncbi.nlm.nih.gov/pubmed/24535056
http://dx.doi.org/10.1038/srep04121

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