Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa

被引：114

作者：

Morimura, H ^{[1
]}

Saindelle-Ribeaudeau, F

Berson, EL

Dryja, TP

机构：

[1] Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Oncol Mol Genet Inst, Boston, MA 02114 USA

[2] Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Berman Gund Lab Study Retinal Degenerat, Boston, MA 02114 USA

[3] Le Mans Hosp, Dept Ophthalmol, F-72037 Le Mans, France

来源：

NATURE GENETICS | 1999年 / 23卷 / 04期

关键词：

D O I：

10.1038/70496

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：393 / 394

页数：2

共 11 条

[1]

Chen XN, 1996, HUM GENET, V97, P720

[2] Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man [J].

Cideciyan, AV ;

Hood, DC ;

Huang, YJ ;

Banin, E ;

Li, ZY ;

Stone, EM ;

Milam, AH ;

Jacobson, SG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (12) :7103-7108

[3] Blue and ultraviolet light-absorbing opsin from the retinal pigment epithelium [J].

Hao, WS ;

Fong, HKW .

BIOCHEMISTRY, 1996, 35 (20) :6251-6256

[4] The endogenous chromophore of retinal G protein-coupled receptor opsin from the pigment epithelium [J].

Hao, WS ;

Fong, HKW .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1999, 274 (10) :6085-6090

[5]

JIANG M, 1993, INVEST OPHTH VIS SCI, V34, P3669

[6]

Morimura H, 1999, INVEST OPHTH VIS SCI, V40, P1000

[7] CYTOPLASMIC RETINAL LOCALIZATION OF AN EVOLUTIONARY HOMOLOG OF THE VISUAL PIGMENTS [J].

PANDEY, S ;

BLANKS, JC ;

SPEE, C ;

JIANG, MS ;

FONG, HKW .

EXPERIMENTAL EYE RESEARCH, 1994, 58 (05) :605-613

[8]

Seeliger MW, 1999, INVEST OPHTH VIS SCI, V40, P3

[9] A HUMAN OPSIN-RELATED GENE THAT ENCODES A RETINALDEHYDE-BINDING PROTEIN [J].

SHEN, DW ;

JIANG, MS ;

HAO, WS ;

TAO, L ;

SALAZAR, M ;

FONG, HKW .

BIOCHEMISTRY, 1994, 33 (44) :13117-13125

[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

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