A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

Bowne, Sara J; Humphries, Marian M; Sullivan, Lori S; Kenna, Paul F; Tam, Lawrence C S; Kiang, Anna S; Campbell, Matthew; Weinstock, George M; Koboldt, Daniel C; Ding, Li; Fulton, Robert S; Sodergren, Erica J; Allman, Denis; Millington-Ward, Sophia; Palfi, Arpad; McKee, Alex; Blanton, Susan H; Slifer, Susan; Konidari, Ioanna; Farrar, G Jane; Daiger, Stephen P; Humphries, Peter

期刊名称European Journal of Human Genetics
作者Bowne, Sara J; Humphries, Marian M; Sullivan, Lori S; Kenna, Paul F; Tam, Lawrence C S; Kiang, Anna S; Campbell, Matthew; Weinstock, George M; Koboldt, Daniel C; Ding, Li; Fulton, Robert S; Sodergren, Erica J; Allman, Denis; Millington-Ward, Sophia; Palfi, Arpad; McKee, Alex; Blanton, Susan H; Slifer, Susan; Konidari, Ioanna; Farrar, G Jane; Daiger, Stephen P; Humphries, Peter
卷第19卷
期第10期
印刷ISSN1018-4813
电子ISSN1476-5438
文件大小640.74KB
发表时间2011-10
DOI10.1038/ejhg.2011.86
页码1074-1081

发现好书期刊，享受阅读乐趣

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement