Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

被引：151

作者：

Stone, EM ^{[1
]}

Webster, AR

Vandenburgh, K

Streb, LM

Hockey, RR

Lotery, AJ

Sheffield, VC

机构：

[1] Univ Iowa, Coll Med, Dept Ophthalmol, Iowa City, IA 52242 USA

[2] Univ Iowa, Coll Med, Dept Pediat, Iowa City, IA 52242 USA

[3] Howard Hughes Med Inst, Iowa City, IA USA

来源：

NATURE GENETICS | 1998年 / 20卷 / 04期

关键词：

D O I：

10.1038/3798

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：328 / 329

页数：2

共 8 条

[1] A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy [J].

Allikmets, R ;

Singh, N ;

Sun, H ;

Shroyer, NE ;

Hutchinson, A ;

Chidambaram, A ;

Gerrard, B ;

Baird, L ;

Stauffer, D ;

Peiffer, A ;

Rattner, A ;

Smallwood, P ;

Li, YX ;

Anderson, KL ;

Lewis, RA ;

Nathans, J ;

Leppert, M ;

Dean, M ;

Lupski, JR .

NATURE GENETICS, 1997, 15 (03) :236-246

[2] Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration [J].

Allikmets, R ;

Shroyer, NF ;

Singh, N ;

Seddon, JM ;

Lewis, RA ;

Bernstein, PS ;

Peiffer, A ;

Zabriskie, NA ;

Li, YX ;

Hutchinson, A ;

Dean, M ;

Lupski, JR ;

Leppert, M .

SCIENCE, 1997, 277 (5333) :1805-1807

[3] Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLCIA) [J].

Alward, WLM ;

Fingert, JH ;

Coote, MA ;

Johnson, AT ;

Lerner, SF ;

Junqua, D ;

Durcan, FJ ;

McCartney, PJ ;

Mackey, DA ;

Sheffield, VC ;

Stone, EM .

NEW ENGLAND JOURNAL OF MEDICINE, 1998, 338 (15) :1022-1027

[4] The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR) [J].

Azarian, SM ;

Travis, GH .

FEBS LETTERS, 1997, 409 (02) :247-252

[5] Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease [J].

Gerber, S ;

Rozet, JM ;

van de Pol, TJR ;

Hoyng, CB ;

Munnich, A ;

Blankenagel, A ;

Kaplan, J ;

Cremers, FPM .

GENOMICS, 1998, 48 (01) :139-142

[6] 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

[7] The five-year incidence and progression of age-related maculopathy - The Beaver Dam eye study [J].

Klein, R ;

Klein, BEK ;

Jensen, SC ;

Meuer, SM .

OPHTHALMOLOGY, 1997, 104 (01) :7-21

[8]

KLEIN R, 1992, OPHTHALMOLOGY, V99, P933

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