CORC  > 中国医学科学院 北京协和医学院
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
DOI10.1016/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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