Electrophysiological and morphological findings in mice heterozygous for a choroideremia (CHM) gene mutation

被引:0
|
作者
Jaissle, G
Ruether, K
vandenHurk, J
Cremers, F
Zrenner, E
机构
[1] UNIV TUBINGEN,DEPT OPHTHALMOL,TUBINGEN,GERMANY
[2] UNIV NIJMEGEN HOSP,DEPT HUMAN GENET,6500 HB NIJMEGEN,NETHERLANDS
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
引用
收藏
页码:1588 / 1588
页数:1
相关论文
共 50 条
  • [1] MUTATION SPECTRUM IN THE CHM GENE OF DANISH AND SWEDISH CHOROIDEREMIA PATIENTS
    VANBOKHOVEN, H
    SCHWARTZ, M
    ANDREASSON, S
    VANDENHURK, JAJM
    BOGERD, L
    JAY, M
    RUTHER, K
    JAY, B
    PAWLOWITZKI, IH
    SANKILA, EM
    WRIGHT, A
    ROPERS, HH
    ROSENBERG, T
    CREMERS, FPM
    HUMAN MOLECULAR GENETICS, 1994, 3 (07) : 1047 - 1051
  • [2] Clinical and functional findings due to complete deletion of the in choroideremia CHM gene
    Mura, Marco
    Screda, Christina
    Jablonski, Monica M.
    MacDonald, Ian M.
    Iannaccone, Alessandro
    ARCHIVES OF OPHTHALMOLOGY, 2007, 125 (08) : 1107 - 1113
  • [3] Clinical and functional findings in a family with choroideremia due to a deletion of the entire CHM gene
    Mura, M
    Sereda, C
    MacDonald, IM
    Iannaccone, A
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2005, 46
  • [4] Identification of the first CHM promoter mutation in a patient with choroideremia
    Radziwon, Alina
    MacDonald, Ian M.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)
  • [5] High resolution imaging analysis of female carriers and patients of Choroideremia with CHM gene mutation
    Gocho, K.
    Akeo, K.
    Kubota, D.
    Katagiri, S.
    Kikuchi, S.
    Hayashi, T.
    Yamaki, K.
    Takahashi, H.
    Kameya, S.
    ACTA OPHTHALMOLOGICA, 2017, 95
  • [6] A frameshift mutation in the CHM gene causes choroideremia with acute angle-closure glaucoma
    Ouyang, Pingbo
    Li, Yun
    Zhang, Feng
    Zhu, Chengzhang
    Zou, Beiji
    Le, Jianlan
    Zhang, Lusi
    MOLECULAR MEDICINE REPORTS, 2018, 17 (06) : 7918 - 7924
  • [7] High resolution imaging analysis of female carriers and patients of choroideremia with CHM gene mutation
    Gocho, Kiyoko
    Akeo, Keiichiro
    Kubota, Daiki
    Katagiri, Satoshi
    Kikuchi, Sachiko
    Hayashi, Takaaki
    Yamaki, Kunihiko
    Takahashi, Hiroshi
    Kameya, Shuhei
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017, 58 (08)
  • [8] Clinical findings in a carrier of a new mutation in the choroideremia gene
    Potter, MJ
    Wong, E
    Szabo, SM
    McTaggart, KE
    OPHTHALMOLOGY, 2004, 111 (10) : 1905 - 1909
  • [9] Molecular genetics characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia
    Imani, Saber
    Ijaz, Iqra
    Shasaltaneh, Marzieh Dehghan
    Fu, Shangyi
    Cheng, Jingliang
    Fu, Junjiang
    MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH, 2018, 775 : 39 - 50
  • [10] ABERRANT SPLICING OF THE CHM GENE IS A SIGNIFICANT CAUSE OF CHOROIDEREMIA
    SANKILA, EM
    TOLVANEN, R
    VANDENHURK, JAJM
    CREMERS, FPM
    DELACHAPELLE, A
    NATURE GENETICS, 1992, 1 (02) : 109 - 113