Identification of mutations in HPRP3, the gene for autosomal dominant retinitis pigmentosa on chromosome 1 and functional analysis of mutations

被引:0
|
作者
Vithana, EN
Chakarova, CF
Bolz, H
Safieh, LA
Wilkie, S
Moore, AT
Gal, A
Bird, AC
Hunt, DM
Bhattacharya, SS
机构
[1] Univ Hamburg, Inst Human Genet, D-2000 Hamburg, Germany
[2] Inst Ophthalmol, Dept Mol Genet, London, England
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
790
引用
收藏
页码:U169 / U169
页数:1
相关论文
共 50 条
  • [1] Functional studies of mutations in HPRP3 associated with autosomal dominant retinitis pigmentosa
    Chakarova, CF
    Vithana, EN
    Wilkie, S
    Hunt, DM
    Bhattacharya, SS
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2003, 44 : U64 - U64
  • [2] Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
    Chakarova, CF
    Hims, MM
    Bolz, H
    Abu-Safieh, L
    Patel, RJ
    Papaioannou, MG
    Inglehearn, CF
    Keen, TJ
    Willis, C
    Moore, AT
    Rosenberg, T
    Webster, AR
    Bird, AC
    Gal, A
    Hunt, D
    Vithana, EN
    Bhattacharya, SS
    HUMAN MOLECULAR GENETICS, 2002, 11 (01) : 87 - 92
  • [3] Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa
    Bowne, Sara J.
    Sullivan, Lori. S.
    Gire, Anisa I.
    Birch, David G.
    Hughbanks-Wheaton, Dianna
    Heckenlively, John R.
    Daiger, Stephen P.
    MOLECULAR VISION, 2008, 14 (109-10): : 922 - 927
  • [4] Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa
    Bowne, SJ
    Daiger, SP
    Hims, MM
    Sohocki, MM
    Malone, KA
    McKie, AB
    Heckenlively, JR
    Birch, DG
    Inglehearn, CF
    Bhattacharya, SS
    Bird, A
    Sullivan, LS
    HUMAN MOLECULAR GENETICS, 1999, 8 (11) : 2121 - 2128
  • [5] Identification of novel RHO mutations in patients with autosomal dominant retinitis pigmentosa
    Waseem, NH
    Perkins, A
    Scott, B
    Winchester, E
    Jenkins, S
    Webster, A
    Bird, AC
    Bhattacharya, SS
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2004, 45 : U941 - U941
  • [6] Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene
    Yuko Wada
    Toshitaka Itabashi
    Hajime Sato
    Makoto Tamai
    Graefe's Archive for Clinical and Experimental Ophthalmology, 2004, 242 : 956 - 961
  • [7] Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.
    Bowne, SJ
    Daiger, SP
    Inglehearn, CF
    Sohocki, MM
    Malone, KA
    Heckenlively, JR
    Birch, DR
    Bhattacharya, SS
    Bird, A
    Hims, MM
    McKie, AB
    Sullivan, LS
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A286 - A286
  • [8] Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene
    Wada, Y
    Itabashi, T
    Sato, H
    Tamai, M
    GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2004, 242 (11) : 956 - 961
  • [9] RHODOPSIN MUTATIONS IN AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
    SUNG, CH
    DAVENPORT, CM
    HENNESSEY, JC
    MAUMENEE, IH
    JACOBSON, SG
    HECKENLIVELY, JR
    NOWAKOWSKI, R
    FISHMAN, G
    GOURAS, P
    NATHANS, J
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (15) : 6481 - 6485
  • [10] Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa
    Daiger, Stephen P.
    Bowne, Sara J.
    Sullivan, Lori S.
    COLD SPRING HARBOR PERSPECTIVES IN MEDICINE, 2015, 5 (10):