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

被引：330

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

[1] A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
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
[J]. NATURE GENETICS, 1997, 15 (03) : 236 - 246
[2] Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
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
[J]. SCIENCE, 1997, 277 (5333) : 1805 - 1807
[3] LOCALIZATION OF PERIPHERIN/RDS IN THE DISK MEMBRANES OF CONE AND ROD PHOTORECEPTORS - RELATIONSHIP TO DISK MEMBRANE MORPHOGENESIS AND RETINAL DEGENERATION
ARIKAWA, K
MOLDAY, LL
MOLDAY, RS
WILLIAMS, DS
[J]. JOURNAL OF CELL BIOLOGY, 1992, 116 (03) : 659 - 667
[4] AZARIAN SM, 1997, FEBS LETT, V409, P347
[5] CLONING OF THE CDNA FOR A NOVEL PHOTORECEPTOR MEMBRANE-PROTEIN (ROM-1) IDENTIFIES A DISK RIM PROTEIN FAMILY IMPLICATED IN HUMAN RETINOPATHIES
BASCOM, RA
MANARA, S
COLLINS, L
MOLDAY, RS
KALNINS, VI
MCINNES, RR
[J]. NEURON, 1992, 8 (06) : 1171 - 1184
[6] BAYES M, IN PRSS J MED GENET
[7] MOLECULAR-GENETICS OF RETINITIS-PIGMENTOSA
DRYJA, TP
LI, T
[J]. HUMAN MOLECULAR GENETICS, 1995, 4 : 1739 - 1743
[8] Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
Gu, SM
Thompson, DA
Srikumari, CRS
Lorenz, B
Finckh, U
Nicoletti, A
Murthy, KR
Rathmann, M
Kumaramanickavel, G
Denton, MJ
Gal, A
[J]. NATURE GENETICS, 1997, 17 (02) : 194 - 197
[9] The 220-kDa Rim protein of retinal rod outer segments is a member of the ABC transporter superfamily
Illing, M
Molday, LL
Molday, RS
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1997, 272 (15) : 10303 - 10310
[10] IDENTIFICATION OF A LOCUS, DISTINCT FROM RDS-PERIPHERIN, FOR AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA ON CHROMOSOME 6P
KNOWLES, JA
SHUGART, Y
BANERJEE, P
GILLIAM, TC
LEWIS, CA
JACOBSON, SG
OTT, J
[J]. HUMAN MOLECULAR GENETICS, 1994, 3 (08) : 1401 - 1403

← 1 2 →