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
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
  • [1] A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract
    Yang, Juhua
    Zhu, Yihua
    Gu, Feng
    He, Xiang
    Cao, Zongfu
    Li, Xuexi
    Tong, Yi
    Ma, Xu
    MOLECULAR VISION, 2008, 14 (85-86): : 727 - 732
  • [2] A novel truncation mutation in CRYBB1 associated with autosomal dominant congenital cataract with nystagmus
    Rao, Yan
    Dong, Sufang
    Li, Zuhua
    Yang, Guohua
    Peng, Chunyan
    Yan, Ming
    Zheng, Fang
    MOLECULAR VISION, 2017, 23 : 624 - 637
  • [3] Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract
    Owen M Siggs
    Shari Javadiyan
    Shiwani Sharma
    Emmanuelle Souzeau
    Karen M Lower
    Deepa A Taranath
    Jo Black
    John Pater
    John G Willoughby
    Kathryn P Burdon
    Jamie E Craig
    European Journal of Human Genetics, 2017, 25 : 711 - 718
  • [4] Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract
    Siggs, Owen M.
    Javadiyan, Shari
    Sharma, Shiwani
    Souzeau, Emmanuelle
    Lower, Karen M.
    Taranath, Deepa A.
    Black, Jo
    Pater, John
    Willoughby, John G.
    Burdon, Kathryn P.
    Craig, Jamie E.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2017, 25 (06) : 711 - 718
  • [5] Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract
    Cohen, David
    Bar-Yosef, Udy
    Levy, Jaime
    Gradstein, Libe
    Belfair, Nadav
    Ofir, Rivka
    Joshua, Sarah
    Lifshitz, Tova
    Carmi, Rivka
    Birk, Ohad S.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2007, 48 (05) : 2208 - 2213
  • [6] A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract
    WANG Jun MA Xu GU Feng LIU Ning-pu HAO Xiao-lin WANG Kai-jie WANG Ning-li ZHU Si-quan Beijing Tongren Eye Center
    中华医学杂志(英文版), 2007, (09) : 820 - 824
  • [7] A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract
    Wang Jun
    Ma Xu
    Gu Feng
    Liu Ning-pu
    Hao Xiao-lin
    Wang Kai-jie
    Wang Ning-li
    Zhu Si-quan
    CHINESE MEDICAL JOURNAL, 2007, 120 (09) : 820 - 824
  • [8] A missense mutation S228P in the CRYBB1 gene causes autosomal dominant congenital cataract
    WANG Jun MA Xu GU Feng LIU Ningpu HAO Xiaolin WANG Kaijie WANG Ningli ZHU Siquan Beijing Tongren Eye Center Capital Medical University Beijing China Wang J Liu NP Hao XL Wang KJ Wang NL Zhu SQDepartment of Genetics National Research Institute for Family Planning Beijing China Ma X Gu F
    Chinese Medical Journal, 2007, 120 (09) : 820 - 824
  • [9] CRYBB1 mutation associated with congenital cataract and microcornea
    Willoughby, CE
    Shafiq, A
    Ferrini, W
    Chan, LLY
    Billingsley, G
    Priston, M
    Mok, C
    Chandna, A
    Kaye, S
    Héon, E
    MOLECULAR VISION, 2005, 11 (69): : 587 - 593
  • [10] A Novel Mutation p.S93R in CRYBB1 Associated with Dominant Congenital Cataract and Microphthalmia
    Jin, Aixia
    Zhang, Yu
    Xiao, Dongchang
    Xiang, Mengqing
    Jin, Kangxin
    Zeng, Mingbing
    CURRENT EYE RESEARCH, 2020, 45 (04) : 483 - 489