ASN244HIS MUTATION OF THE PERIPHERIN/RDS GENE CAUSING AUTOSOMAL-DOMINANT CONE-ROD DEGENERATION

被引：53

作者：

NAKAZAWA, M

KIKAWA, E

CHIDA, Y

TAMAI, M

机构：

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 07期

关键词：

D O I：

10.1093/hmg/3.7.1195

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：1195 / 1196

页数：2

共 14 条

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[6] A NULL MUTATION IN THE HUMAN PERIPHERIN RDS GENE IN A FAMILY WITH AUTOSOMAL DOMINANT RETINITIS PUNCTATA ALBESCENS [J].

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

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