RETINAL PATTERN DYSTROPHY ASSOCIATED WITH A 4 BP INSERTION AT CODON-140 IN THE RDS-PERIPHERIN GENE

被引：46

作者：

KEEN, TJ ^{[1
]}

INGLEHEARN, CF ^{[1
]}

KIM, R ^{[1
]}

BIRD, AC ^{[1
]}

BHATTACHARYA, S ^{[1
]}

机构：

[1] INST OPHTHALMOL,DEPT CLIN OPHTHALMOL,LONDON WC1V 9EL,ENGLAND

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 02期

关键词：

D O I：

10.1093/hmg/3.2.367

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：367 / 368

页数：2

共 13 条

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[3] DEVELOPMENT AND DEGENERATION OF RETINA IN RDS MUTANT MICE - PHOTORECEPTOR ABNORMALITIES IN THE HETEROZYGOTES
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[J]. EXPERIMENTAL EYE RESEARCH, 1985, 41 (06) : 701 - 720
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[5] MUTATIONS IN THE HUMAN RETINAL DEGENERATION SLOW GENE IN AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
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[6] A NULL MUTATION IN THE HUMAN PERIPHERIN RDS GENE IN A FAMILY WITH AUTOSOMAL DOMINANT RETINITIS PUNCTATA ALBESCENS
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[J]. NATURE GENETICS, 1993, 3 (03) : 208 - 212
[7] KEEN J, 1993, TRENDS GENET, V7, P5
[8] NONSENSE MUTATIONS AND DIMINISHED MESSENGER-RNA LEVELS
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[J]. NATURE GENETICS, 1993, 4 (03) : 219 - 219
[9] BUTTERFLY-SHAPED PIGMENT DYSTROPHY OF THE FOVEA CAUSED BY A POINT MUTATION IN CODON-167 OF THE RDS GENE
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STONE, EM
[J]. NATURE GENETICS, 1993, 3 (03) : 202 - 207
[10] NICHOLS BE, 1993, HUM MOL GENET, V1, P41

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