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

来源：

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2018年 / 59卷 / 09期

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：

引用

页数：4

共 50 条

[1] Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa
Wei Liu
Ruru Guo
Huijie Hao
Jian Ji
BMC Ophthalmology, 21
[2] Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa
Liu, Wei
Guo, Ruru
Hao, Huijie
Ji, Jian
BMC OPHTHALMOLOGY, 2021, 21 (01)
[3] A FAMILY WITH DOMINANT HEREDITARY RETINITIS PIGMENTOSA
VANWALBEEK, K
OPHTHALMOLOGICA, 1954, 128 (04) : 246 - 247
[4] Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa
Gao, Meng
Zhang, Su
Liu, Chunjie
Qin, Yayun
Archacki, Stephen
Jin, Ling
Wang, Yong
Liu, Fei
Chen, Jiaxiang
Liu, Ying
Wang, Jiuxiang
Huang, Mi
Liao, Shengjie
Tang, Zhaohui
Guo, An Yuan
Jiang, Fagang
Liu, Mugen
MOLECULAR VISION, 2016, 22 : 234 - 242
[5] A novel role of KIF3b in the seminoma cell cycle
Shen, Hao-Qing
Xiao, Yu-Xi
She, Zhen-Yu
Tan, Fu-Qing
Yang, Wan-Xi
EXPERIMENTAL CELL RESEARCH, 2017, 352 (01) : 95 - 103
[6] Identification of a novel mutation in the IMPDH1 gene in a Chinese family with Autosomal Dominant Retinitis Pigmentosa
Wang, Youjin
Liu, Fei
Zhang, Xinxin
Liu, Yupu
Yan, Tingyu
Liu, Qian
He, Yanyan
Liu, Changyang
Lei, Shizhen
Wang, Xiaochen
Liu, Hehe
Kong, Jun
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
[7] A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family
Liu, Tiecheng
Jin, Xin
Zhang, Xuemin
Yuan, Huijun
Cheng, Jing
Lee, Janet
Zhang, Baoquan
Zhang, Maonian
Wu, Jing
Wang, Lijuan
Tian, Geng
Wang, Weifeng
PLOS ONE, 2012, 7 (09):
[8] Novel rhodopsin mutation (M216R) in a Danish family with autosomal dominant retinitis pigmentosa
Haim, M
Grundmann, K
Gal, A
Rosenberg, T
OPHTHALMIC GENETICS, 1996, 17 (04): : 193 - 197
[9] A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family
Sheng, Xunlun
Li, Zili
Zhang, Xinfang
Wang, Jing
Ren, Hongwang
Sun, Yanbo
Meng, Ruihua
Rong, Weining
Zhuang, Wenjuan
MOLECULAR VISION, 2010, 16 (174-76): : 1620 - 1628
[10] AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA (ADRP) - A RHODOPSIN MUTATION IN A SCOTTISH FAMILY
BELL, C
CONVERSE, CA
COLLINS, MF
ESAKOWITZ, L
KELLY, KF
HAITES, NE
JOURNAL OF MEDICAL GENETICS, 1992, 29 (09) : 667 - 668

← 1 2 3 4 5 →