Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the Oguchi form of congenital stationary night blindness

被引:0
|
作者
Khani, S. C.
Nielsen, L.
Vogt, T. M.
机构
关键词
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [41] Two Novel NYX Gene Mutations in The Chinese Families With X-Linked Congenital Stationary Night Blindness
    Li, Ningdong
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (07)
  • [42] Detailed phenotypic characterization of a Beagle dog with the complete form of Schubert Bornschein congenital stationary night blindness.
    Oh, Annie
    Foster, Melanie Louise
    Davidson, Michael G.
    Mowat, Freya M.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017, 58 (08)
  • [43] Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness
    Dai, Shuzhen
    Ying, Ming
    Wang, Kai
    Wang, Liming
    Han, Ruifang
    Hao, Peng
    Li, Ningdong
    SCIENTIFIC REPORTS, 2015, 5
  • [44] Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness
    Dryja, TP
    Hahn, LB
    Reboul, T
    Arnaud, B
    NATURE GENETICS, 1996, 13 (03) : 358 - 360
  • [45] Abnormalities of the scotopic threshold response correlated with gene mutation in X-linked retinoschisis and congenital stationary night blindness
    Keith Bradshaw
    Douglas Newman
    Louise Allen
    Anthony Moore
    Documenta Ophthalmologica, 2003, 107 : 155 - 164
  • [46] Abnormalities of the scotopic threshold response correlated with gene mutation in X-linked retinoschisis and congenital stationary night blindness
    Bradshaw, K
    Newman, D
    Allen, L
    Moore, A
    DOCUMENTA OPHTHALMOLOGICA, 2003, 107 (02) : 155 - 164
  • [47] Why choose 9-cis retinal for therapy of congenital stationary night blindness caused by G90D rhodopsin?
    Peng Xie
    Yan Zhang
    Theoretical Chemistry Accounts, 2017, 136
  • [48] Why choose 9-cis retinal for therapy of congenital stationary night blindness caused by G90D rhodopsin?
    Xie, Peng
    Zhang, Yan
    THEORETICAL CHEMISTRY ACCOUNTS, 2016, 136 (01)
  • [49] A dominant form of congenital stationary night blindness (adCSNB) in a large Chinese family: Exclusion of five known point mutations in three genes as the cause of the disorder.
    Chen, SH
    Zhuang, S
    Hu, S
    Liu, X
    Lin, B
    Wu, W
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 587 - 587
  • [50] Whole Exome Sequencing Identifies Mutations in GNB3 to Cause a Novel Congenital Stationary Night Blindness Phenotype
    Vincent, Ajoy
    Tavares, Erika
    Audo, Isabelle S.
    Maynes, Jason
    Li, Shuning
    Michiels, Christelle
    Tumber, Anupreet
    Macdonald, Heather
    Roadhouse, Chelsea
    Zeitz, Christina
    Heon, Elise
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)