Phenotype of autosomal dominant cone–rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1

被引:0
|
作者
M Smith
N Whittock
A Searle
M Croft
C Brewer
M Cole
机构
[1] Torbay Hospital,Department of Ophthalmology
[2] Institute of Biomedical and Clinical Science,Department of Clinical Genetics
[3] Peninsula Medical School,undefined
[4] Royal Devon and Exeter Hospital,undefined
来源
Eye | 2007年 / 21卷
关键词
cone dystrophy; cone–rod dystrophy; GUCY2D; RETGC-1;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:1220 / 1225
页数:5
相关论文
共 35 条
  • [1] Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1
    Smith, M.
    Whittock, N.
    Searle, A.
    Croft, M.
    Brewer, C.
    Cole, M.
    EYE, 2007, 21 (09) : 1220 - 1225
  • [2] Autosomal Dominant Cone-Rod Dystrophy with R838H and R838C Mutations in the GUCY2D Gene in Japanese Patients
    Sei Ito
    Makoto Nakamura
    Yoshitaka Ohnishi
    Yozo Miyake
    Japanese Journal of Ophthalmology, 2004, 48 : 228 - 235
  • [3] Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients
    Ito, S
    Nakamura, M
    Ohnishi, Y
    Miyake, Y
    JAPANESE JOURNAL OF OPHTHALMOLOGY, 2004, 48 (03) : 228 - 235
  • [4] Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1
    Downes, SM
    Payne, AM
    Kelsell, RE
    Fitzke, FW
    Holder, GE
    Hunt, DM
    Moore, AT
    Bird, AC
    ARCHIVES OF OPHTHALMOLOGY, 2001, 119 (11) : 1667 - 1673
  • [5] Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase
    Gregory-Evans, K
    Kelsell, RE
    Gregory-Evans, CY
    Downes, SM
    Fitzke, FW
    Holder, GE
    Simunovic, M
    Mollon, JD
    Taylor, R
    Hunt, DM
    Bird, AC
    Moore, AT
    OPHTHALMOLOGY, 2000, 107 (01) : 55 - 61
  • [6] Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies
    Payne, AM
    Morris, AG
    Downes, SM
    Johnson, S
    Bird, AC
    Moore, AT
    Bhattacharya, SS
    Hunt, DM
    JOURNAL OF MEDICAL GENETICS, 2001, 38 (09) : 611 - 614
  • [7] A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene
    R Mukherjee
    A G Robson
    G E Holder
    A Stockman
    C A Egan
    A T Moore
    A R Webster
    Eye, 2014, 28 : 481 - 487
  • [8] A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene
    Mukherjee, R.
    Robson, A. G.
    Holder, G. E.
    Stockman, A.
    Egan, C. A.
    Moore, A. T.
    Webster, A. R.
    EYE, 2014, 28 (04) : 481 - 487
  • [9] Imaging Cone Structure in Autosomal Dominant Cone Rod Dystrophy Caused by GUCY2D Mutations
    Warren, Clinton
    Scoles, Drew H.
    Dubis, Adam
    Aboshiha, Jonathan
    Webster, Andrew
    Michaelides, Michel
    Han, Dennis P.
    Carroll, Joseph
    Dubra, Alfredo
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (13)
  • [10] Frequency and functional analysis of mutations in the retinal guanylate cyclase 1 (GUCY2D) gene in patients with dominant cone-rod dystrophies.
    Hunt, DM
    Wilkie, SE
    Payne, AM
    Downes, SM
    Morris, AG
    Newbold, RJ
    Derry, E
    Bhattacharya, SS
    Moore, AT
    Warren, MJ
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2001, 42 (04) : S640 - S640