RPGR mutations account for approximate to 15% of X-linked retinitis pigmentosa.

被引:0
|
作者
Swaroop, A
Buraczynska, M
Chen, C
Buraczynska, K
Falls, T
Phelps, E
Andreasson, S
Fishman, GA
Hoffman, D
Jacobson, SG
Sieving, PA
Fujita, R
机构
[1] UNIV MICHIGAN,KELLOGG EYE CTR,ANN ARBOR,MI 48109
[2] LUND UNIV,DEPT OPHTHALMOL,LUND,SWEDEN
[3] UNIV ILLINOIS,EYE & EAR INFIRM,CHICAGO,IL 60612
[4] UNIV PENN,SCHEIE EYE INST,PHILADELPHIA,PA 19104
[5] RETINA FDN SW,DALLAS,TX
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
收藏
页码:3176 / 3176
页数:1
相关论文
共 50 条
  • [21] Mutations in X-linked RPGR in families with apparent autosomal dominant retinitis pigmentosa (adRP)
    Gire, A
    Bowne, SJ
    Sullivan, LS
    Birch, DG
    Hughbanks-Wheaton, D
    Heckenlively, JR
    Daiger, SP
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2003, 44 : U399 - U399
  • [22] Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations
    Sandberg, Michael A.
    Rosner, Bernard
    Weigel-DiFranco, Carol
    Dryja, Thaddeus P.
    Berson, Eliot L.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2007, 48 (03) : 1298 - 1304
  • [23] Mutation spectrum of the RPGR gene in X-linked retinitis pigmentosa
    Bruns, G
    Eisenman, R
    Dryja, TP
    Berson, EL
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1997, 38 (04) : 3178 - 3178
  • [24] Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa.
    von Ruckmann, A
    Fitzke, FW
    Bird, AC
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2001, 42 (04) : S74 - S74
  • [25] Evidence for a new X-linked syndrome involving retinitis pigmentosa.
    Zito, I
    Downes, SM
    Patel, RJ
    Holder, GE
    Bird, AG
    Bhattacharya, SS
    Hardcastle, AJ
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2001, 42 (04) : S641 - S641
  • [26] Preclinical Development of AAV Vectors for the Treatment of X-linked Retinitis Pigmentosa Caused by RPGR Mutations
    Wu, Zhijian
    Hiriyanna, Suja
    Qian, Haohua
    Mookherjee, Suddhasil
    Kaneshiro, Kayleigh
    Campos, Maria M.
    Fariss, Robert N.
    Li, Tiansen
    Swaroop, Anand
    Colosi, Peter
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (13)
  • [27] RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa
    Sharon, D
    Sandberg, MA
    Rabe, VW
    Stillberger, M
    Dryja, TP
    Berson, EL
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 1131 - 1146
  • [28] Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations
    Lyraki, Rodanthi
    Megaw, Roly
    Hurd, Toby
    BIOCHEMICAL SOCIETY TRANSACTIONS, 2016, 44 : 1235 - 1244
  • [29] A novel mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa
    Hui-Hui Sun
    Jing-Cong Zhao
    Su-Ling Yang
    Jin-Dou Shi
    Yun-Shuo Wei
    Jian-Cang Wang
    Feng Gu
    Lu Chen
    International Journal of Ophthalmology, 2022, 15 (09) : 1423 - 1430
  • [30] A novel mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa
    Sun, Hui -Hui
    Zhao, Jing-Cong
    Yang, Su-Ling
    Shi, Jin-Dou
    Wei, Yun-Shuo
    Wang, Jian-Cang
    Gu, Feng
    Chen, Lu
    INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, 2022, 15 (09) : 1423 - 1430