基于多重PCR-HRM的高通量视网膜色素变性基因突变筛查与RP新致病基因鉴定
序号 | 标题 | 类型 | 作者 |
---|---|---|---|
1 | Novel mutations in CRB1 gene identified in a chinese pedigree with retinitis pigmentosa by targeted capture and next generation sequencing | 期刊论文 | Lu Lan;Wang Xizhen;Lo David;Weng Jingning;Liu Xiaohong;Yang Juhua;He Fen;Wang Yun;Liu Xuyang |
2 | Mutation screening of crystallin genes in Chinese families with congenital cataracts | 期刊论文 | Jianfu Zhuang;Zongfu Cao;Yihua Zhu;Lijua Liu;Yi Tong;Xiaole Chen;Yaduan Wang;Cailing Lu;Xu Ma;Juhua Yang |
3 | 高频突变外显子测序发现GJA8突变所致先天性白内障的家系分析 | 期刊论文 | 曹宗富;刘丽娟;喻浴飞;朱益华;童 绎;马 旭;阳菊华 |
4 | 一种白内障致病基因高频突变区的界定及其检测试剂盒 | 专利 | 阳菊华;朱益华;朱益华 |
5 | Novel mutations in HSF4 cause congenital cataracts in Chinese families | 期刊论文 | Zhongfu Cao;Yihua Zhu;Lijuan Liu;shuangqing Wu;Bing Liu;Jianfu Zhuang;Yi Tong;Xiaole Chen;Yongqing Xie;Kaimei Nie;Cailing Lu;Xu Ma;Juhua Yang |
6 | A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family | 期刊论文 | Yao Yi Hua;Wang Ya Qin;Fang Wei Fang;Zhang Liu;Yang Ju Hua;Zhu Yi Hua |