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
  • [21] Novel mutation identified in Leber congenital amaurosis - a case report
    Shigeru Sato
    Takeshi Morimoto
    Sayaka Tanaka
    Kikuko Hotta
    Takashi Fujikado
    Motokazu Tsujikawa
    Kohji Nishida
    BMC Ophthalmology, 20
  • [22] Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
    Gerber, S
    Perrault, I
    Hanein, S
    Barbet, F
    Ducroq, D
    Ghazi, I
    Martin-Coignard, D
    Leowski, C
    Homfray, T
    Dufier, JL
    Munnich, A
    Kaplan, J
    Rozet, JM
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2001, 9 (08) : 561 - 571
  • [23] Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
    Sylvie Gerber
    Isabelle Perrault
    Sylvain Hanein
    Fabienne Barbet
    Dominique Ducroq
    Imad Ghazi
    Dominique Martin-Coignard
    Corinne Leowski
    Tessa Homfray
    Jean-Louis Dufier
    Arnold Munnich
    Josseline Kaplan
    Jean-Michel Rozet
    European Journal of Human Genetics, 2001, 9 : 561 - 571
  • [24] Mutation analysis of 3 genes in patients with leber congenital amaurosis
    Lotery, AJ
    Namperumalsamy, P
    Jacobson, SG
    Weleber, RG
    Fishman, GA
    Musarella, MA
    Hoyt, CS
    Héon, E
    Levin, A
    Jan, J
    Lam, B
    Carr, RE
    Franklin, A
    Radha, S
    Andorf, JL
    Sheffield, VC
    Stone, EM
    ARCHIVES OF OPHTHALMOLOGY, 2000, 118 (04) : 538 - 543
  • [25] Monogenic inheritance of Leber congenital amaurosis:: causation by a novel mutation in CRB1.
    Abouzeid, H
    Dharmaraj, S
    Sundin, O
    Maumenee, I
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2004, 45 : U510 - U510
  • [26] Novel mutation identified in Leber congenital amaurosis-a case report
    Sato, Shigeru
    Morimoto, Takeshi
    Tanaka, Sayaka
    Hotta, Kikuko
    Fujikado, Takashi
    Tsujikawa, Motokazu
    Nishida, Kohji
    BMC OPHTHALMOLOGY, 2020, 20 (01)
  • [27] Cone structure and function in dogs with RPGRIP1 mutation
    Das, Gautami
    Santana, Evelyn
    Iwabe, Simone
    Aguirre, Gustavo D.
    Miyadera, Keiko
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)
  • [28] Null mutations in the RPGR-interacting protein gene (RPGRIP) in patients with Leber congenital amaurosis.
    McGee, TL
    Adams, SM
    Grimsby, JL
    Hong, DH
    Li, T
    Andréasson, S
    Berson, EL
    Dryja, TP
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2001, 42 (04) : S644 - S644
  • [29] Vision in patients with Leber congenital amaurosis
    Lambert, SR
    Kriss, A
    Taylor, D
    ARCHIVES OF OPHTHALMOLOGY, 1997, 115 (02) : 293 - 294
  • [30] Molecular, functional and mutation analysis of RPGRIP1 isoforms
    Lu, X
    Guruju, M
    Ferreira, PA
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2005, 46
12345