Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

被引：333

作者：

Martínez-Mir, A

Paloma, E

Allikmets, R

Ayuso, C

del Río, T

Dean, M

Vilageliu, L

Gonzàlez-Duarte, R ^{[1
]}

Balcells, S

机构：

[1] Univ Barcelona, Fac Biol, Dept Genet, E-08071 Barcelona, Spain

[2] NCI, Intramural Res Support Program, SAIC Frederick, Frederick Canc Res & Dev Ctr, Frederick, MD 21702 USA

[3] Fdn Jimenez Diaz, Dept Genet, E-28040 Madrid, Spain

[4] NCI, Lab Gen Divers, Frederick Canc Res & Dev Ctr, Frederick, MD 21702 USA

来源：

NATURE GENETICS | 1998年 / 18卷 / 01期

关键词：

D O I：

10.1038/ng0198-11

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：11 / 12

页数：2

共 15 条

[11] A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21 [J].

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DelRio, T ;

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Baiget, M ;

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Balcells, S .

GENOMICS, 1997, 40 (01) :142-146

[12] Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa [J].

Maw, MA ;

Kennedy, B ;

Knight, A ;

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Mani, EJ ;

Mukkadan, JK ;

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Denton, MJ .

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[13]

MAW S, 1997, NAT GENET, V17, P198

[14]

Osterberg GA., 1935, ACTA OPHTHALMOL S, V13, P1

[15] Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments [J].

Sun, H ;

Nathans, J .

NATURE GENETICS, 1997, 17 (01) :15-16

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