A NOVEL MUTATION (ASN244LYS) IN THE PERIPHERIN/RDS GENE CAUSING AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ASSOCIATED WITH BULLS-EYE MACULOPATHY DETECTED BY NONRADIOISOTOPIC SSCP

被引：36

作者：

KIKAWA, E ^{[1
]}

NAKAZAWA, M ^{[1
]}

CHIDA, Y ^{[1
]}

SHIONO, T ^{[1
]}

TAMAI, M ^{[1
]}

机构：

[1] TOHOKU UNIV,SCH MED,DEPT OPHTHALMOL,AOBA KU,SENDAI,MIYAGI 980,JAPAN

来源：

GENOMICS | 1994年 / 20卷 / 01期

关键词：

D O I：

10.1006/geno.1994.1142

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

[No abstract available]

引用

页码：137 / 139

页数：3

共 8 条

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[8] MUTATIONS IN THE HUMAN RETINAL DEGENERATION SLOW (RDS) GENE CAN CAUSE EITHER RETINITIS-PIGMENTOSA OR MACULAR DYSTROPHY [J].

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