Mutation detection and characterisation of RPGR. The gene for X-linked retinitis pigmentosa (RP3).

被引:0
|
作者
Dry, KL
Manson, FDC
Edgar, AJ
Lennon, AA
Bergen, AAB
Bird, AC
Wright, A
机构
[1] WESTERN GEN HOSP, MRC, HUMAN GENET UNIT, EDINBURGH EH4 2XU, MIDLOTHIAN, SCOTLAND
[2] UCL, MOORFIELDS EYE HOSP, DEPT CLIN OPHTHALMOL, LONDON, ENGLAND
[3] NETHERLANDS OPHTHALM RES INST, NL-1100 AC AMSTERDAM, 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:3177 / 3177
页数:1
相关论文
共 50 条
  • [1] Mutation analysis of RPGR gene in patients with X-linked Retinitis Pigmentosa (RP3)
    Ciccodicola, A
    Miano, MG
    Testa, F
    Simonelli, F
    Baiget, M
    Antinolo, G
    Del Porto, G
    Danesino, C
    Rinaldi, E
    Ventruto, V
    D'Urso, M
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A328 - A328
  • [2] A mouse model of X-linked retinitis pigmentosa (RP3) with a null mutation in the RPGR gene
    Hong, D
    Pawlyk, BS
    Berson, EL
    Li, T
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1999, 40 (04) : S390 - S390
  • [3] Mutations of RPGR in X-linked retinitis pigmentosa (RP3)
    Vervoort, R
    Wright, AF
    [J]. HUMAN MUTATION, 2002, 19 (05) : 486 - 500
  • [4] Identification of a 5′ splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)
    Dry, KL
    Manson, FDC
    Lennon, A
    Bergen, AA
    Van Dorp, DB
    Wright, AF
    [J]. HUMAN MUTATION, 1999, 13 (02) : 141 - 145
  • [5] A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)
    Hong, DH
    Pawlyk, BS
    Shang, JZ
    Sandberg, MA
    Berson, EL
    Li, TS
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (07) : 3649 - 3654
  • [6] IN SEARCH OF X-LINKED RETINITIS-PIGMENTOSA GENE RP3
    SWAROOP, A
    FUJITA, R
    AYON, D
    DESHMUKH, D
    BLUMBERG, M
    SIEVING, PA
    YANGFENG, T
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1994, 35 (04) : 1716 - 1716
  • [7] Mutation spectrum of the RPGR gene in X-linked retinitis pigmentosa
    Bruns, G
    Eisenman, R
    Dryja, TP
    Berson, EL
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1997, 38 (04) : 3178 - 3178
  • [8] ISOLATION OF A CANDIDATE GENE FOR X-LINKED RETINITIS-PIGMENTOSA (RP3)
    DRY, KL
    ALDRED, MA
    EDGAR, AJ
    MANSON, FDC
    BROWN, J
    PROSSER, J
    THOMSON, KL
    JAY, M
    BIRD, AC
    WRIGHT, AF
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1501 - 1501
  • [9] Genetic analysis of the X-linked Retinitis pigmentosa locus RP3
    Forsythe, P
    Fujita, R
    Buraczynska, M
    Hoffman, D
    Jacobson, S
    Sieving, P
    Swaroop, A
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1996, 37 (03) : 5157 - 5157
  • [10] X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR
    Weleber, RG
    Butler, NS
    Murphey, WH
    Sheffield, VC
    Stone, EM
    [J]. ARCHIVES OF OPHTHALMOLOGY, 1997, 115 (11) : 1429 - 1435