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] OPA1 (Kjer type) dominant optic atrophy: A novel mitochondrial disease
    Delettre, C
    Lenaers, G
    Pelloquin, L
    Belenguer, P
    Hamel, CP
    MOLECULAR GENETICS AND METABOLISM, 2002, 75 (02) : 97 - 107
  • [42] Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy
    Fuhrmann, N.
    Alavi, M. V.
    Bitoun, P.
    Woernle, S.
    Auburger, G.
    Leo-Kottler, B.
    Yu-Wai-Man, P.
    Chinnery, P.
    Wissinger, B.
    JOURNAL OF MEDICAL GENETICS, 2009, 46 (02) : 136 - 144
  • [43] 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
  • [44] OPA1 dominant optic atrophy - from disease mechanisms to novel therapies
    Yu-Wai-Man, Patrick
    BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2024, 1865 : 20 - 20
  • [45] 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
  • [46] 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
  • [47] Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy
    Almind, Gitte J.
    Gronskov, Karen
    Milea, Dan
    Larsen, Michael
    Brondum-Nielsen, Karen
    Ek, Jakob
    BMC MEDICAL GENETICS, 2011, 12
  • [48] 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
  • [49] 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
  • [50] Dominant Optic Atrophy: Novel OPA1 Mutations and Revised Prevalence Estimates
    Yu-Wai-Man, Patrick
    Chinnery, Patrick F.
    OPHTHALMOLOGY, 2013, 120 (08) : 1712 - +
12345