2 NEW RHODOPSIN TRANSVERSION MUTATIONS (L40R M216K) IN FAMILIES WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA

被引：5

作者：

ALMAGHTHEH, M

INGLEHEARN, C

LUNT, P

JAY, M

BIRD, A

BHATTACHARYA, S

机构：

[1] MOORFIELDS EYE HOSP,DEPT CLIN OPHTHALMOL,LONDON EC1V 9EL,ENGLAND

[2] BRISTOL ROYAL HOSP SICK CHILDREN INST CHILD HLTH,CLIN GENET SERV,BRISTOL BS2 8BJ,ENGLAND

来源：

HUMAN MUTATION | 1994年 / 3卷 / 04期

关键词：

D O I：

10.1002/humu.1380030417

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：409 / 410

页数：2

共 10 条

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[6] EXCLUSION OF THE INVOLVEMENT OF ALL KNOWN RETINITIS-PIGMENTOSA LOCI IN THE DISEASE PRESENT IN A FAMILY OF IRISH ORIGIN PROVIDES EVIDENCE FOR A 6TH-AUTOSOMAL DOMINANT LOCUS (RP8)
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[7] A NULL MUTATION IN THE RHODOPSIN GENE CAUSES ROD PHOTORECEPTOR DYSFUNCTION AND AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA
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[J]. NATURE GENETICS, 1992, 1 (03) : 209 - 213
[8] DNA SEQUENCING WITH CHAIN-TERMINATING INHIBITORS
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[9] RHODOPSIN MUTATIONS IN AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
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[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (15) : 6481 - 6485
[10] FUNCTIONAL-HETEROGENEITY OF MUTANT RHODOPSINS RESPONSIBLE FOR AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
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[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1991, 88 (19) : 8840 - 8844

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