The ABCA4 gene in autosomal recessive cone-rod dystrophies

被引：40

作者：

Ducroq, D

Rozet, JM

Gerber, S

Perrault, I

Barbet, F

Hanein, S

Hakiki, S

Dufier, JL

Munnich, A

Hamel, C

Kaplan, J

机构：

[1] Hop Enfants Malad, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, France

[2] Hop Necker Enfants Malad, Serv Ophtalmol, Paris, France

[3] INSERM, U254, Montpellier, France

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2002年 / 71卷 / 06期

关键词：

D O I：

10.1086/344829

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1480 / 1482

页数：3

共 14 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] Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR [J].

Cremers, FPM ;

van De Pol, DJR ;

van Driel, M ;

den Hollander, AI ;

van Haren, FJJ ;

Knoers, NVAM ;

Tijmes, N ;

Bergen, AAB ;

Rohrschneider, K ;

Blankenagel, A ;

Pinckers, AJLG ;

Deutman, AF ;

Hoyng, CB .

HUMAN MOLECULAR GENETICS, 1998, 7 (03) :355-362

[3]

Danciger M, 2001, INVEST OPHTH VIS SCI, V42, P2458

[4] 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

[5]

Klevering BJ, 2002, INVEST OPHTH VIS SCI, V43, P1980

[6] 3′ deletions cause aniridia by preventing PAX6 gene expression [J].

Lauderdale, J ;

Wilensky, JS ;

Oliver, ER ;

Walton, DS ;

Glaser, T .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (25) :13755-13759

[7] Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease [J].

Lewis, RA ;

Shroyer, NF ;

Singh, N ;

Allikmets, R ;

Hutchinson, A ;

Li, YX ;

Lupski, JR ;

Leppert, M ;

Dean, M .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (02) :422-434

[8] Depolarization bandwidth of fiber optic passive depolarizers [J].

Martinelli, M ;

Palais, JC .

OPTICAL ENGINEERING, 2001, 40 (01) :142-143

[9] Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy [J].

Maugeri, A ;

Klevering, BJ ;

Rohrschneider, K ;

Blankenagel, A ;

Brunner, HG ;

Deutman, AF ;

Hoyng, CB ;

Cremers, FPM .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) :960-966

[10] A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration [J].

Rivera, A ;

White, K ;

Stöhr, H ;

Steiner, K ;

Hemmrich, N ;

Grimm, T ;

Jurklies, B ;

Lorenz, B ;

Scholl, HPN ;

Apfelstedt-Sylla, E ;

Weber, BHF .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) :800-813

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