Japanese

Causative Genes for Amyotrophic Lateral Sclerosis Hirofumi Maruyama 1 , Hiroyuki Morino 2 , Hideshi Kawakami 2 1Department of Clinical Neuroscience & Therapeutics, Hiroshima University Graduate School of Biomedical and Health Sciences 2Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University Keyword: 筋萎縮性側索硬化症 , 原因遺伝子 , 次世代シークエンサー , 遺伝カウンセリング , OMIM(online mendelian inheritance in man) , amyotrophic lateral sclerosis , causative gene , next generation sequencer , genetic counseling , OMIM (online mendelian inheritance in man) pp.1081-1086
Published Date 2016/9/1
DOI https://doi.org/10.11477/mf.1416200555
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Abstract

About 20 causative genes were reported for amyotrophic lateral sclerosis. Using next generation sequencer, new genes have been sequentially reported. These genes' products are thought to be involved in the pathologic mechanism of ALS. The pathophysiology is investigated and disease characteristics are discussed according to the causative genes. In addition, genetic counseling is recommended when genetic diagnosis is attempted.


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電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院

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