换一批Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
第一作者：
Xu, Mingchu
作者：
Xu, Mingchu [1]
;
Xie, Yajing (Angela) [2]
;
Abouzeid, Hana [3]
;
Gordon, Christopher T. [4]
;
Fiorentino, Alessia [5]
;
Sun, Zixi [6]
;
Lehman, Anna [7]
;
Osman, Ihab S. [8]
;
Dharmat, Rachayata [9]
;
Riveiro-Alvarez, Rosa [10]
;
Bapst-Wicht, Linda [11]
;
Babino, Darwin [12]
;
Arno, Gavin [13]
;
Busetto, Virginia [14]
;
Zhao, Li [15]
;
Li, Hui [16]
;
Lopez-Martinez, Miguel A. ;
Azevedo, Liliana F. ;
Hubert, Laurence ;
Pontikos, Nikolas ;
Eblimit, Aiden ;
Lorda-Sanchez, Isabel ;
Kheir, Valeria ;
Plagnol, Vincent ;
Oufadem, Myriam ;
Soens, Zachry T. ;
Yang, Lizhu ;
Bole-Feysot, Christine ;
Pfundt, Rolph ;
Allaman-Pillet, Nathalie ;
Nitschke, Patrick ;
Cheetham, Michael E. ;
Lyonnet, Stanislas ;
Agrawal, Smriti A. ;
Li, Huajin ;
Pinton, Gaetan ;
Michaelides, Michel ;
Besmond, Claude ;
Li, Yumei ;
Yuan, Zhisheng ;
von Lintig, Johannes ;
Webster, Andrew R. ;
Le Hir, Herve ;
Stoilov, Peter ;
Amiel, Jeanne ;
Hardcastle, Alison J. ;
Ayuso, Carmen ;
Sui, Ruifang ;
Chen, Rui ;
Allikmets, Rando ;
Schorderet, Daniel F.
作者单位：
PSL Res Univ, CNRS UMR 8197, Inst Biol IENS IBENS, INSERM U1024,Ecole Normale Super, F-75005 Paris
[1]
UCL, UCL Inst Ophthalmol, London EC1V 9EL, England
[2]
Inst Invest Sanitaria Fdn Jimenez Diaz IIS FJD, Dept Genet, Madrid 28040, Spain
[3]
Case Western Reserve Univ Sch Med, Dept Pharmacol, Cleveland, OH 44106 USA
[4]
Univ British Columbia, Dept Med Genet, Vancouver, BC V6H 3N1, Canada
[5]
Univ Virginia, Dept Biochem & Canc Inst, Robert C Byrd Hlth Sci Ctr, Morgantown, WV 26506 USA
[6]
Chinese Acad Med Sci, Peking Union Med ical Coll Hosp, Peking Union Med Coll, Dept Ophthalmol
[7]
Cairo Univ, Dept Ophthalmol, Cairo 11562, Egypt
[8]
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[9]
Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6525 Nijmegen, Netherlands
[10]
Columbia Univ, Dept Ophthalmol, New York, NY 10032 USA
[11]
UCL, Genet Inst, London WC1E 6BT, England
[12]
Inst Natl Sante & Recherche Med INSERM, Inst Imagine, Lab Embryol & Genet Congenital Malformat, UMR
[13]
Paris Descartes Sorbonne Paris Cite Univ, Inst Imagine, F-75015 Paris, France
[14]
Inst Res Ophthalmol, CH-1950 Sion, Switzerland
[15]
Inst Imagine, Genom Platform, INSERM UMR 1163, F-75015 Paris, France
[16]
发布时间
2017-11-22
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The American Journal of Human Genetics
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