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Further evidence for P59L mutation in GJA3 associated with autosomal dominant congenital cataract

CONTEXT: Congenital cataracts are one of the common eye disorders leading to visual impairment or blindness in children worldwide. We found a Chinese family with autosomal dominant pulverulent cataract. AIMS: To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inheri...

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Detalles Bibliográficos
Autores principales: Wang, Li, Chen, Yuhong, Chen, Xueli, Sun, Xinghuai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5026076/
https://www.ncbi.nlm.nih.gov/pubmed/27609163
http://dx.doi.org/10.4103/0301-4738.190139