A 2 BASE-PAIR DELETION IN THE RDS GENE ASSOCIATED WITH BUTTERFLY-SHAPED PIGMENT DYSTROPHY OF THE FOVEA

被引：65

作者：

NICHOLS, BE

DRACK, AV

VANDENBURGH, K

KIMURA, AE

SHEFFIELD, VC

STONE, EM

机构：

[1] UNIV IOWA HOSP & CLIN,DEPT OPHTHALMOL,IOWA CITY,IA 52242

[2] UNIV IOWA HOSP & CLIN,DEPT PEDIAT,IOWA CITY,IA 52242

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 05期

关键词：

D O I：

10.1093/hmg/2.5.601

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：601 / 603

页数：3

共 24 条

[1] CLONING OF THE CDNA FOR A NOVEL PHOTORECEPTOR MEMBRANE-PROTEIN (ROM-1) IDENTIFIES A DISK RIM PROTEIN FAMILY IMPLICATED IN HUMAN RETINOPATHIES [J].

BASCOM, RA ;

MANARA, S ;

COLLINS, L ;

MOLDAY, RS ;

KALNINS, VI ;

MCINNES, RR .

NEURON, 1992, 8 (06) :1171-1184

[2] PHOTORECEPTOR PERIPHERIN IS THE NORMAL PRODUCT OF THE GENE RESPONSIBLE FOR RETINAL DEGENERATION IN THE RDS MOUSE [J].

CONNELL, G ;

BASCOM, R ;

MOLDAY, L ;

REID, D ;

MCINNES, RR ;

MOLDAY, RS .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (03) :723-726

[3]

DEUTMAN AF, 1970, ARCH OPHTHALMOL-CHIC, V83, P558

[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] A 3-BASE-PAIR DELETION IN THE PERIPHERIN-RDS GENE IN ONE FORM OF RETINITIS-PIGMENTOSA [J].

FARRAR, GJ ;

KENNA, P ;

JORDAN, SA ;

KUMARSINGH, R ;

HUMPHRIES, MM ;

SHARP, EM ;

SHEILS, DM ;

HUMPHRIES, P .

NATURE, 1991, 354 (6353) :478-480

[6]

FARRAR GJ, 1992, GENOMICS, V14, P805

[7]

FERRELL RE, 1983, AM J HUM GENET, V35, P78

[8]

FORSMAN K, 1992, CLIN GENET, V42, P156

[9]

GASS JDM, 1973, ARCH OPHTHALMOL-CHIC, V90, P206

[10] SENILE MACULAR DEGENERATION - A CASE-CONTROL STUDY [J].

HYMAN, LG ;

LILIENFELD, AM ;

FERRIS, FL ;

FINE, SL .

AMERICAN JOURNAL OF EPIDEMIOLOGY, 1983, 118 (02) :213-227

← 1 2 3 →