Partial duplication of CRYBB1 as a novel genetic mechanism for autosomal dominant congenital cataract

被引：0
|
作者：
Siggs, Owen M. [1 ]
Javadiyan, Shari [1 ]
Sharma, Shiwani [1 ]
Burdon, Kathryn P. [2 ]
Craig, Jamie E. [1 ]
机构：
[1] Flinders Univ S Australia, Dept Ophthalmol, Bedford Pk, SA 5042, Australia
[2] Univ Tasmania, Menzies Inst Med Res, Hobart, Tas, Australia
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2015年 / 56卷 / 07期
关键词：
D O I：
暂无
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
2518
引用
收藏
页数：2
相关论文
共 50 条
  • [41] Novel mutations associated with autosomal-dominant congenital cataract identified in Chinese families
    Wang, Zhenyu
    Huang, Chen
    Sun, Yanxiu
    Lv, Huibin
    Zhang, Mingzhou
    Li, Xuemin
    EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2019, 18 (04) : 2701 - 2710
  • [42] A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract
    Ling Liu
    Qing Zhang
    Lu-xin Zhou
    Zhao-hui Tang
    Journal of Huazhong University of Science and Technology [Medical Sciences], 2015, 35 : 316 - 318
  • [43] Analyses of genetic data from the study of a large autosomal dominant congenital cataract family.
    Geyer, DD
    Berry, R
    Johannes, M
    Clancy, K
    Spence, MA
    Flodman, P
    Bateman, JB
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A276 - A276
  • [44] Clinical and genetic heterogeneity of autosomal dominant cataract (ADCC)
    Francis, C
    Berry, V
    Mackay, D
    Shiels, A
    Moore, AT
    Bhattacharya, SS
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1999, 40 (04) : S785 - S785
  • [45] AUTOSOMAL-DOMINANT CONGENITAL CATARACT - INTEROCULAR PHENOTYPIC VARIABILITY
    SCOTT, MH
    HEJTMANCIK, JF
    WOZENCRAFT, LA
    REUTER, LM
    PARKS, MM
    KAISERKUPFER, MI
    OPHTHALMOLOGY, 1994, 101 (05) : 866 - 871
  • [46] Visual outcome in patients with isolated autosomal dominant congenital cataract
    Francis, PJ
    Ionides, A
    Berry, V
    Bhattacharya, S
    Moore, AT
    OPHTHALMOLOGY, 2001, 108 (06) : 1104 - 1108
  • [47] Linkage analysis in autosomal dominant congenital cataract families.
    Kumar, V
    Singh, D
    Sperling, K
    Singh, JR
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 511 - 511
  • [48] Connexin46 mutations in autosomal dominant congenital cataract
    Mackay, D
    Ionides, A
    Kibar, Z
    Rouleau, G
    Berry, V
    Moore, A
    Shiels, A
    Bhattacharya, S
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (05) : 1357 - 1364
  • [49] Genetic analysis of autosomal dominant congenital cataracts
    Tsilfidis, C
    Levin, AV
    Muller, W
    DaSilva, L
    Heon, E
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1996, 37 (03) : 4540 - 4540
  • [50] Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population
    Devi, R
    Reena, C
    Vijayalakshmi, P
    MOLECULAR VISION, 2005, 11 (100-1): : 846 - 852
12345