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Vol.47 No.6 >

Please use this identifier to cite or link to this item: http://hdl.handle.net/10564/763

Title: FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS : MUTANT CU/ZN SUPEROXIDE DISMUTASE
Authors: Ueno, Satoshi
Keywords: familial amyotrophic lateral sclerosis
superoxide dismutase
gene mutation
Issue Date: 31-Dec-1996
Publisher: 奈良医学会
Citation: 奈良医学雑誌 Vol.47 No.6 p.354-360
Abstract: Six Japanese families with familial amyotrophic lateral sclerosis (FALS) were subjected to genetic analysis of the Cu/Zn superoxi.de dismutase gene (SOD 1). Sequence analysis revealed two novel mutations in two independent families. A T-to-A transversion causes a Val 17 Glu substitution in one family. A T-to-G mutation leads to a Leu 8 Val substitution in another family. Other four families had unique clinical symptoms, and normal coding sequences of the SOD 1 gene, suggesting that FALS is a complex of heterogeneous motor neuron diseases.
URI: http://hdl.handle.net/10564/763
ISSN: 04695550
13450069
Appears in Collections:Vol.47 No.6

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