期刊
NEUROSCIENCE LETTERS
卷 312, 期 3, 页码 165-168出版社
ELSEVIER SCI IRELAND LTD
DOI: 10.1016/S0304-3940(01)02212-1
关键词
amyotrophic lateral sclerosis; Cu/Zn superoxide dismutase; homozygous mutation
We identified a missense mutation of the Cu/Zn superoxide dismutase (SOD) gene (Leu126Ser) in a Japanese family with ALS that included a patient with the homozygous mutation. The content of the Cu/Zn SOD polypeptide in erythrocytes was markedly reduced in the case with the homozygous mutation compared to those with the heterozygous mutation. We speculated that this reduction of the mutant Cu/Zn SOD molecule might be related to the severe clinical phenotype of the case. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.
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