Novel RPGRIP1 mutation in Leber congenital amaurosis patients

被引：0
|
作者：
Habibi, Imen [1 ,2 ]
Falfoul, Yousra [2 ]
Chebil, Ahmed [2 ]
El Matri, Leila [2 ]
Schorderet, Daniel F. [1 ]
机构：
[1] Inst Res Ophthalmol, Sion, Switzerland
[2] Hedi Rais Inst Ophthalmol, Dept Ophthalmol B, Res Lab Oculogenet LR14SP01, Tunis, Tunisia
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2017年 / 58卷 / 08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：
3239
引用
收藏
页数：2
相关论文
共 50 条
  • [31] A Novel Nonsense Mutation in KCNJ13 Causes Leber Congenital Amaurosis
    Pattnaik, Bikash R.
    Marino, Meghan J.
    Chiang, John
    Pillers, De-Ann M.
    Traboulsi, Elias I.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (13)
  • [32] Screening genes of the retinoid metabolism:: Novel LRAT mutation in Leber congenital amaurosis
    Senechal, Audrey
    Humbert, Ghyslaine
    Surget, MarieOdile
    Bazalgette, Cecile
    Bazalgette, Christian
    Arnaud, Bernard
    Arndt, Carl
    Laurent, Eric
    Brabet, Philippe
    Hamel, Christian P.
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 2006, 142 (04) : 702 - 704
  • [33] Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis
    Xi, Quansheng
    Pauer, Gayle J. T.
    Traboulsi, Elias I.
    Hagstrom, Stephanie A.
    EXPERIMENTAL EYE RESEARCH, 2006, 83 (03) : 569 - 573
  • [34] CONGENITAL AMAUROSIS OF LEBER
    GILLESPIE, FD
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 1966, 61 (5P1) : 874 - +
  • [35] Mutation Analysis of Japanese Patients with Leber Congenital Amaurosis by Next Generation Sequencing
    Hosono, Katsuhiro
    Nishina, Sachiko
    Yokoi, Tadashi
    Katagiri, Satoshi
    Kurata, Kentaro
    Miyamichi, Daisuke
    Mizobuchi, Kei
    Nakano, Tadashi
    Minoshima, Shinsei
    Fukami, Maki
    Kondo, Hiroyuki
    Sato, Miho
    Hayashi, Takaaki
    Azuma, Noriyuki
    Hotta, Yoshihiro
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2018, 59 (09)
  • [36] Novel TULP1 mutation causing Leber congenital amaurosis or early onset retinal degeneration
    Mataftsi, Asimina
    Schorderet, Daniel F.
    Chachoua, Louisa
    Boussalah, Myriam
    Nouri, Mohamed T.
    Barthelmes, Daniel
    Borruat, Francois-Xavier
    Munier, Francis L.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2007, 48 (11) : 5160 - 5167
  • [37] Leber Congenital Amaurosis
    Tsang, Stephen H.
    Sharma, Tarun
    ATLAS OF INHERITED RETINAL DISEASES, 2018, 1085 : 131 - 137
  • [38] Leber congenital amaurosis
    Perrault, I
    Rozet, JM
    Gerber, S
    Ghazi, I
    Leowski, C
    Ducroq, D
    Souied, E
    Dufier, JL
    Munnich, A
    Kaplan, J
    MOLECULAR GENETICS AND METABOLISM, 1999, 68 (02) : 200 - 208
  • [39] Screening of NUB1 in patients with Leber Congenital Amaurosis
    Preising, MN
    Sitorus, RS
    Rosenberg, T
    Kellner, U
    Lorenz, B
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2003, 44 : U399 - U399
  • [40] Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations
    Zou, Gang
    Zhang, Tao
    Cheng, Xuesen
    Igelman, Austin D.
    Wang, Jun
    Qian, Xinye
    Fu, Shangyi
    Wang, Keqing
    Koenekoop, Robert K.
    Fishman, Gerald A.
    Yang, Paul
    Li, Yumei
    Pennesi, Mark E.
    Chen, Rui
    MOLECULAR VISION, 2021, 27 : 95 - 106
12345