A novel mutation in KIF3B in a family with dominant retinitis pigmentosa and polydactyly

被引:0
|
作者
Daiger, Stephen P. [1 ,2 ]
Sullivan, Lori S. [1 ]
Bowne, Sara J. [1 ]
Cadena, Elizabeth L. [1 ]
Bujakowska, Kinga Maria [3 ]
Pierce, Eric A. [3 ]
Gorin, Michael B. [4 ,5 ]
Latypova, Xenia [6 ]
Davis, Erica E. [6 ]
Katsanis, Nicholas [6 ]
Martin, Ludovic [6 ]
Legeai-Mallet, Laurence [7 ,8 ]
Cogne, Benjamin [9 ]
Bezieau, Stephane [9 ]
Besnard, Thomas [9 ]
Isidor, Bertrand [9 ]
机构
[1] Univ Texas Hlth Sci Ctr Houston, Sch Pub Hlth, Ctr Human Genet, Houston, TX 77030 USA
[2] Univ Texas Hlth Sci Ctr Houston, Ruiz Dept Ophthalmol & Visual Sci, Houston, TX 77030 USA
[3] Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02114 USA
[4] Univ Calif Los Angeles, Jules Stein Eye Inst, Los Angeles, CA 90024 USA
[5] Univ Calif Los Angeles, Dept Ophthalmol, Los Angeles, CA USA
[6] Duke Univ, Med Ctr, Ctr Human Dis Modeling, Durham, NC USA
[7] Univ Paris 05, Sorbonne Paris Cite, Paris, France
[8] Hop Necker Enfants Malad, Paris, France
[9] CHU Nantes, Nantes, France
关键词
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
47
引用
收藏
页数:4
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