Physical mapping of the dominant optic atrophy gene, OPA1.

被引：0
作者：
Churchill, AJ
Lench, NJ
Markham, AF
机构：
[1] Univ Leeds, St James Hosp, Dept Ophthalmol, Leeds LS9 7TF, W Yorkshire, England
[2] Univ Leeds, St James Hosp, Dept Mol Med, Leeds LS9 7TF, W Yorkshire, England
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1997年 / 61卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
1348
引用
收藏
页码：A232 / A232
页数：1
相关论文
共 50 条
  • [41] A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family
    Mei, Shaoyi
    Huang, Xiaosheng
    Cheng, Lin
    Peng, Shiming
    Zhu, Tianhui
    Chen, Liang
    Wang, Yan
    Zhao, Jun
    JOURNAL OF OPHTHALMOLOGY, 2019, 2019
  • [42] Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)
    Brown, J
    Fingert, JH
    Taylor, CM
    Lake, M
    Sheffield, VC
    Stone, EM
    ARCHIVES OF OPHTHALMOLOGY, 1997, 115 (01) : 95 - 99
  • [43] OPA1 dominant optic atrophy - from disease mechanisms to novel therapies
    Yu-Wai-Man, Patrick
    BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2024, 1865 : 20 - 20
  • [44] The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations
    Yu-Wai-Man, Patrick
    Griffiths, Philip G.
    Burke, Ailbhe
    Sellar, Peter W.
    Clarke, Michael P.
    Gnanaraj, Lawrence
    Ah-Kine, Desiree
    Hudson, Gavin
    Czermin, Birgit
    Taylor, Robert W.
    Horvath, Rita
    Chinnery, Patrick F.
    OPHTHALMOLOGY, 2010, 117 (08) : 1538 - 1546
  • [45] OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy
    Han, J
    Thompson-Lowrey, AJ
    Reiss, A
    Mayorov, V
    Jlia, H
    Biousse, V
    Newman, NJ
    Brown, MD
    GENETICS IN MEDICINE, 2006, 8 (04) : 217 - 225
  • [46] A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy
    Zhang, Juanjuan
    Yuan, Yimin
    Lin, Bing
    Feng, Hao
    Li, Yan
    Dai, Xianning
    Zhou, Huihui
    Dong, Xujie
    Liu, Xiao-Ling
    Guan, Min-Xin
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2012, 419 (04) : 670 - 675
  • [47] OPA1 mutations and clinical phenotype in Japanese patients with dominant optic atrophy
    Hewitt, AW
    Fitzgerald, LM
    McKay, J
    Mulhall, L
    Mackey, DA
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2004, 45 : U943 - U943
  • [48] Autosomal dominant optic atrophy:: Penetrance and expressivity in patients with OPA1 mutations
    Cohn, Amn C.
    Toomes, Carmel
    Potter, Catherine
    Towns, Katherine V.
    Hewitt, Alex W.
    Inglehearn, Chris F.
    Craig, Jamie E.
    Mackey, David A.
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 2007, 143 (04) : 656 - 662
  • [49] Contrasting pathophysiological mechanisms of OPA1 mutations in autosomal dominant optic atrophy
    Shi-Qi Yao
    Jia-Jian Liang
    Hui Zhou
    Shaoying Tan
    Yingjie Cao
    Chong-Bo Chen
    Ciyan Xu
    Ruixi Wang
    Tai-Ping Li
    Fang-Fang Zhao
    Yun Wang
    Han-Jie He
    Dan Zhang
    Meng Wang
    Lifang Liu
    Patrick Yu-Wai-Man
    Shihui Wei
    Ling-Ping Cen
    Cell Death Discovery, 11 (1)
  • [50] Dominant Optic Atrophy: Novel OPA1 Mutations and Revised Prevalence Estimates
    Yu-Wai-Man, Patrick
    Chinnery, Patrick F.
    OPHTHALMOLOGY, 2013, 120 (08) : 1712 - +
12345