A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree

AIM: To identify the disease-causing gene mutation in a Chinese pedigree with autosomal dominant cone-rod dystrophy (adCORD). METHODS: A southern Chinese adCORD pedigree including 9 affected individuals was studied. Whole-exome sequencing (WES), coupling the Agilent whole-exome capture system to th...

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Autors principals:	Qin-Kang Lu, Na Zhao, Ya-Su Lv, Wei-Kun Gong, Hui-Yun Wang, Qi-Hu Tong, Xiao-Ming Lai, Rong-Rong Liu, Ming-Yan Fang, Jian-Guo Zhang, Zhen-Fang Du, Xian-Ning Zhang
Format:	Artigo
Idioma:	Inglês
Publicat:	Press of International Journal of Ophthalmology (IJO PRESS) 2015-12-01
Col·lecció:	International Journal of Ophthalmology
Matèries:	cone-rod dystrophy autosomal dominant cone-rod dystrophy whole-exome sequencing Sanger sequencing CRX gene mutation
Accés en línia:	http://www.ijo.cn/en_publish/2015/6/20150606.pdf
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