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GINMU >
03 紀要 >
031 Journal of Nara Medical Association >
Vol.47 No.6 >
Please use this identifier to cite or link to this item:
http://hdl.handle.net/10564/763
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| 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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Files in This Item:
| File |
Description |
Size | Format |
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| 354-360p.FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS.pdf | | 769Kb | Adobe PDF | View/Open |
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