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 [J].
BUNDEY, S ;
CREWS, SJ .
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 [J].
DRYJA, TP ;
MCGEE, TL ;
REICHEL, E ;
HAHN, LB ;
COWLEY, GS ;
YANDELL, DW ;
SANDBERG, MA ;
BERSON, EL .
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 [J].
LYNESS, AL ;
ERNST, W ;
QUINLAN, MP ;
CLOVER, GM ;
ARDEN, GB ;
CARTER, RM ;
BIRD, AC ;
PARKER, JA .
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 [J].
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 .
GENOMICS, 1989, 5 (03) :619-622
[9]  
SPARKES RS, 1986, INVEST OPHTH VIS SCI, V27, P1170
[10]   RHODOPSIN MUTATIONS IN AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA [J].
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