Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies | |
Xu, Mingchu; Xie, Yajing; Abouzeid, Hana; Gordon, Christopher T.; Fiorentino, Alessia; Sun, Zixi; Lehman, Anna; Osman, Ihab S.; Dharmat, Rachayata; Riveiro-Alvarez, Rosa | |
2017 | |
卷号 | 100期号:4页码:592-604 |
关键词 | CRISPR-Cas9 CWC27 brachydachtyly craniofacial defects neurological defects retinal degeneration short stature spliceosome syndrome |
ISSN号 | 0002-9297 |
DOI | 10.1016/j.ajhg.2017.02.008 |
URL标识 | 查看原文 |
收录类别 | SCIE ; PUBMED |
内容类型 | 期刊论文 |
URI标识 | http://www.corc.org.cn/handle/1471x/6369150 |
专题 | 中国医学科学院 北京协和医学院 |
推荐引用方式 GB/T 7714 | Xu, Mingchu,Xie, Yajing,Abouzeid, Hana,et al. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies[J],2017,100(4):592-604. |
APA | Xu, Mingchu.,Xie, Yajing.,Abouzeid, Hana.,Gordon, Christopher T..,Fiorentino, Alessia.,...&Schorderet, Daniel F..(2017).Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.,100(4),592-604. |
MLA | Xu, Mingchu,et al."Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies".100.4(2017):592-604. |
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