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
  • [1] Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the Oguchi form of congenital stationary night blindness
    Khani, SC
    Nielsen, L
    Vogt, TM
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (06) : 2824 - 2827
  • [2] Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness
    Yamamoto, S
    Sippel, KC
    Berson, EL
    Dryja, TP
    NATURE GENETICS, 1997, 15 (02) : 175 - 178
  • [3] Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness
    Shuji Yamamoto
    Kimberly C. Sippel
    Eliot L. Berson
    Thaddeus P. Dryja
    Nature Genetics, 1997, 15 : 175 - 178
  • [4] Defects in the rhodopsin kinase gene in patients with the Oguchi form of stationary night blindness
    Yamamoto, S
    Sippel, KC
    Berson, EL
    Dryja, TP
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1997, 38 (04) : 3703 - 3703
  • [5] 1 Rhodopsin Mutations in Congenital Night Blindness
    McAlear, Suzanne D.
    Kraft, Timothy W.
    Gross, Alecia K.
    RETINAL DEGENERATIVE DISEASES: LABORATORY AND THERAPEUTIC INVESTIGATIONS, 2010, 664 : 263 - 272
  • [6] Molecular analyses of two novel mutations in Rhodopsin causing Congenital Stationary Night Blindness
    Marigo, Valeria
    Bighinati, Andrea
    Manes, Gael
    Bocquet, Beatrice
    Felline, Angelo Nicola
    Fanelli, Francesca
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2022, 63 (07)
  • [7] Assessing Retinal Structure in Complete Congenital Stationary Night Blindness and Oguchi Disease
    Godara, Pooja
    Cooper, Robert F.
    Sergouniotis, Panagiotis I.
    Diederichs, Melissa A.
    Streb, Megan R.
    Genead, Mohamed A.
    McAnany, J. Jason
    Webster, Andrew R.
    Moore, Anthony T.
    Dubis, Adam M.
    Neitz, Maureen
    Dubra, Alfredo
    Stone, Edwin M.
    Fishman, Gerald A.
    Han, Dennis P.
    Michaelides, Michel
    Carroll, Joseph
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 2012, 154 (06) : 987 - 1001
  • [8] TRPM1 mutations are associated with the complete form of congenital stationary night blindness
    Nakamura, Makoto
    Sanuki, Rikako
    Yasuma, Tetsuhiro R.
    Onishi, Akishi
    Nishiguchi, Koji M.
    Koike, Chieko
    Kadowaki, Mikiko
    Kondo, Mineo
    Miyake, Yozo
    Furukawa, Takahisa
    MOLECULAR VISION, 2010, 16 (48): : 425 - 437
  • [9] THE ELECTRORETINOGRAPHIC DIAGNOSIS OF THE INCOMPLETE FORM OF CONGENITAL STATIONARY NIGHT BLINDNESS
    TREMBLAY, F
    LAROCHE, RG
    DEBECKER, I
    VISION RESEARCH, 1995, 35 (16) : 2383 - 2393
  • [10] HETEROZYGOUS MISSENSE MUTATION IN THE RHODOPSIN GENE AS A CAUSE OF CONGENITAL STATIONARY NIGHT BLINDNESS
    DRYJA, TP
    BERSON, EL
    RAO, V
    OPRIAN, DD
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1993, 34 (04) : 1150 - 1150