Superoxide dismutase 1: Identification of a novel mutation in a case of familial amyotrophic lateral sclerosis

被引：25

作者：

Kostrzewa, M

Damian, MS

Muller, U

机构：

[1] UNIV GIESSEN,INST HUMAN GENET,D-35392 GIESSEN,GERMANY

[2] UNIV GIESSEN,NEUROL KLIN,D-35392 GIESSEN,GERMANY

来源：

HUMAN GENETICS | 1996年 / 98卷 / 01期

关键词：

D O I：

10.1007/s004390050157

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mutation analysis of the superoxide dismutase gene SOD1 in a familial case of amyotrophic lateral sclerosis revealed a T-->C transition at codon 151 of exon 5. This mutation results in the substitution of an isoleucine for a threonine. It appears to affect formation of dimers of the protein and is the most C-terminal amino acid change in SOD1 described to date.

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页码：48 / 50

页数：3

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