Identification of mutations in HPRP3, the gene for autosomal dominant retinitis pigmentosa on chromosome 1 and functional analysis of mutations

被引：0
|
作者：
Vithana, EN
Chakarova, CF
Bolz, H
Safieh, LA
Wilkie, S
Moore, AT
Gal, A
Bird, AC
Hunt, DM
Bhattacharya, SS
机构：
[1] Univ Hamburg, Inst Human Genet, D-2000 Hamburg, Germany
[2] Inst Ophthalmol, Dept Mol Genet, London, England
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2002年 / 43卷
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：
790
引用
收藏
页码：U169 / U169
页数：1
相关论文
共 50 条
  • [21] Arrestin gene mutations in autosomal recessive retinitis pigmentosa
    Nakazawa, M
    Wada, Y
    Tamai, M
    ARCHIVES OF OPHTHALMOLOGY, 1998, 116 (04) : 498 - 501
  • [22] Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa
    Sullivan, LS
    Heckenlively, JR
    Bowne, SJ
    Zuo, J
    Hide, WA
    Gal, A
    Denton, M
    Inglehearn, CF
    Blanton, SH
    Daiger, SP
    NATURE GENETICS, 1999, 22 (03) : 255 - 259
  • [23] MUTATIONS IN THE HUMAN RETINAL DEGENERATION SLOW GENE IN AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
    KAJIWARA, K
    HAHN, LB
    MUKAI, S
    TRAVIS, GH
    BERSON, EL
    DRYJA, TP
    NATURE, 1991, 354 (6353) : 480 - 483
  • [24] Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa
    Lori S. Sullivan
    John R. Heckenlively
    Sara J. Bowne
    Jian Zuo
    Winston A. Hide
    Andreas Gal
    Michael Denton
    Chris F. Inglehearn
    Susan H. Blanton
    Stephen P. Daiger
    Nature Genetics, 1999, 22 : 255 - 259
  • [25] Screening for mutations in the IMPDH1 gene in Japanese patients with autosomal dominant retinitis pigmentosa.
    Wada, Y
    Tada, A
    Itabashi, T
    Kawamura, M
    Sato, H
    Tamai, M
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 2005, 140 (01) : 163 - 165
  • [26] SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
    Zhang, Tao
    Bai, Jingshan
    Zhang, Xinyi
    Zheng, Xiaowei
    Lu, Nan
    Liang, Zhongyin
    Lin, Ling
    Chen, Yongsong
    FRONTIERS IN MEDICINE, 2021, 7
  • [27] SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa
    Yuan Liu
    Xue Chen
    Qihua Xu
    Xiang Gao
    Pancy O. S. Tam
    Kanxing Zhao
    Xiumei Zhang
    Li Jia Chen
    Wenshuang Jia
    Qingshun Zhao
    Douglas Vollrath
    Chi Pui Pang
    Chen Zhao
    Scientific Reports, 5
  • [28] Novel mutations identified in a screen of patients with autosomal dominant retinitis pigmentosa
    Sullivan, LS
    Browne, SJ
    Hills, MM
    Heckenlively, JR
    Birch, DG
    Hughbanks-Wheaton, D
    Liebelt, JE
    Daiger, SP
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2003, 44 : U397 - U397
  • [29] PRPF4 mutations cause autosomal dominant retinitis pigmentosa
    Chen, Xue
    Liu, Yuan
    Sheng, Xunlun
    Tam, Pancy O. S.
    Zhao, Kanxing
    Chen, Xuejuan
    Rong, Weining
    Liu, Yani
    Liu, Xiaoxing
    Pan, Xinyuan
    Chen, Li Jia
    Zhao, Qingshun
    Vollrath, Douglas
    Pang, Chi Pui
    Zhao, Chen
    HUMAN MOLECULAR GENETICS, 2014, 23 (11) : 2926 - 2939
  • [30] Prevalence of Mutations in eyeGENE Probands With a Diagnosis of Autosomal Dominant Retinitis Pigmentosa
    Sullivan, Lori S.
    Bowne, Sara J.
    Reeves, Melissa J.
    Blain, Delphine
    Goetz, Kerry
    NDifor, Vida
    Vitez, Sally
    Wang, Xinjing
    Tumminia, Santa J.
    Daiger, Stephen P.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2013, 54 (09) : 6255 - 6261
12345