AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA (ADRP) - A RHODOPSIN MUTATION IN A SCOTTISH FAMILY

被引:12
作者
BELL, C
CONVERSE, CA
COLLINS, MF
ESAKOWITZ, L
KELLY, KF
HAITES, NE
机构
[1] UNIV ABERDEEN,SCH MED,DEPT MOLEC & CELL BIOL,ABERDEEN AB9 2ZD,SCOTLAND
[2] UNIV STRATHCLYDE,DEPT PHARMACEUT SCI,GLASGOW G1 1XW,SCOTLAND
[3] ROYAL ALEXANDRA HOSP,EYE CLIN,PAISLEY,SCOTLAND
基金
英国惠康基金;
关键词
D O I
10.1136/jmg.29.9.667
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:667 / 668
页数:2
相关论文
共 10 条
  • [1] A STUDY OF RETINITIS PIGMENTOSA IN THE CITY OF BIRMINGHAM .2. CLINICAL AND GENETIC-HETEROGENEITY
    BUNDEY, S
    CREWS, SJ
    [J]. JOURNAL OF MEDICAL GENETICS, 1984, 21 (06) : 421 - 428
  • [2] CONVERSE CA, 1991, RETINAL DEGENERATION, P143
  • [3] DOI T, 1990, P NATL ACAD SCI USA, V87, P4991, DOI 10.1073/pnas.87.13.4991
  • [4] A POINT MUTATION OF THE RHODOPSIN GENE IN ONE FORM OF RETINITIS-PIGMENTOSA
    DRYJA, TP
    MCGEE, TL
    REICHEL, E
    HAHN, LB
    COWLEY, GS
    YANDELL, DW
    SANDBERG, MA
    BERSON, EL
    [J]. NATURE, 1990, 343 (6256) : 364 - 366
  • [5] FARRAR GJ, 1991, GENOMICS, V11, P1170
  • [6] LESTER DH, 1990, AM J HUM GENET, V47, P536
  • [7] A CLINICAL, PSYCHOPHYSICAL, AND ELECTRORETINOGRAPHIC SURVEY OF PATIENTS WITH AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA
    LYNESS, AL
    ERNST, W
    QUINLAN, MP
    CLOVER, GM
    ARDEN, GB
    CARTER, RM
    BIRD, AC
    PARKER, JA
    [J]. BRITISH JOURNAL OF OPHTHALMOLOGY, 1985, 69 (05) : 326 - 339
  • [8] AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA (ADRP) - LOCALIZATION OF AN ADRP GENE TO THE LONG ARM OF CHROMOSOME-3
    MCWILLIAM, P
    FARRAR, GJ
    KENNA, P
    BRADLEY, DG
    HUMPHRIES, MM
    SHARP, EM
    MCCONNELL, DJ
    LAWLER, M
    SHEILS, D
    RYAN, C
    STEVENS, K
    DAIGER, SP
    HUMPHRIES, P
    [J]. GENOMICS, 1989, 5 (03) : 619 - 622
  • [9] SPARKES RS, 1986, INVEST OPHTH VIS SCI, V27, P1170
  • [10] 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
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (15) : 6481 - 6485