Identification of a novel heterozygous missense mutation in the CACNA1F gene in a chinese family with retinitis pigmentosa by next generation sequencing
利用新一代测序技术,在一例中国视网膜色素变性家族中鉴定出CACNA1F基因的新型杂合错义突变。
期刊:Biomed Research International
影响因子:2.3
doi:10.1155/2015/907827
Zhou, Qi; Cheng, Jingliang; Yang, Weichan; Tania, Mousumi; Wang, Hui; Khan, Md Asaduzzaman; Duan, Chengxia; Zhu, Li; Chen, Rui; Lv, Hongbin; Fu, Junjiang