Founder effect, seen in the British population, of the 172 peripherin/RDS mutation -: and further refinement of genetic positioning of the peripherin/RDS gene

被引:46
作者
Payne, AM
Downes, SM
Bessant, DAR
Bird, AC
Bhattacharya, SS
机构
[1] Inst Ophthalmol, Dept Mol Genet, London, England
[2] Moorfields Eye Hosp, London, England
关键词
D O I
10.1086/301679
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:192 / 195
页数:4
相关论文
共 9 条
[1]  
Keen TJ, 1996, HUM MUTAT, V8, P297
[2]   RETINAL PATTERN DYSTROPHY ASSOCIATED WITH A 4 BP INSERTION AT CODON-140 IN THE RDS-PERIPHERIN GENE [J].
KEEN, TJ ;
INGLEHEARN, CF ;
KIM, R ;
BIRD, AC ;
BHATTACHARYA, S .
HUMAN MOLECULAR GENETICS, 1994, 3 (02) :367-368
[3]   Macular dystrophy associated with monogenic ARG172TRP mutation of the peripherin RDS gene in a Japanese family [J].
Nakazawa, M ;
Wada, Y ;
Tamai, M .
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 1995, 15 (06) :518-523
[4]   Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene [J].
Piguet, B ;
Heon, E ;
Munier, FL ;
Grounauer, PA ;
Niemeyer, G ;
Butler, N ;
Schorderet, DF ;
Sheffield, VC ;
Stone, EM .
OPHTHALMIC GENETICS, 1996, 17 (04) :175-186
[5]   A POINT MUTATION IN THE RDS-PERIPHERIN GENE IN A SPANISH FAMILY WITH CENTRAL AREOLAR CHOROIDAL DYSTROPHY [J].
REIG, C ;
SERRA, A ;
GEAN, E ;
VIDAL, M ;
ARUMI, J ;
DELACALZADA, MD ;
ANTICH, J ;
CARBALLO, M .
OPHTHALMIC GENETICS, 1995, 16 (02) :39-44
[6]  
WADA Y, 1995, INVEST OPHTH VIS SCI, V36, P890
[7]   PHENOTYPIC VARIATION INCLUDING RETINITIS-PIGMENTOSA, PATTERN DYSTROPHY, AND FUNDUS FLAVIMACULATUS IN A SINGLE-FAMILY WITH A DELETION OF CODON 153 OR 154 OF THE PERIPHERIN/RDS GENE [J].
WELEBER, RG ;
CARR, RE ;
MURPHEY, WH ;
SHEFFIELD, VC ;
STONE, EM .
ARCHIVES OF OPHTHALMOLOGY, 1993, 111 (11) :1531-1542
[8]   MUTATIONS IN THE HUMAN RETINAL DEGENERATION SLOW (RDS) GENE CAN CAUSE EITHER RETINITIS-PIGMENTOSA OR MACULAR DYSTROPHY [J].
WELLS, J ;
WROBLEWSKI, J ;
KEEN, J ;
INGLEHEARN, C ;
JUBB, C ;
ECKSTEIN, A ;
JAY, M ;
ARDEN, G ;
BHATTACHARYA, S ;
FITZKE, F ;
BIRD, A .
NATURE GENETICS, 1993, 3 (03) :213-218
[9]  
WROBLEWSKI JJ, 1994, OPHTHALMOLOGY, V101, P12