An exon 5 mutation (c.425G>C, p.Gly141Ala) in the SOD1 gene in a Chinese family associated with incomplete penetrance

Si-Qi DongDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, China, View further author information

Xiao-Ni LiuDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, China, ;Institute of Neurology, Fudan University, Shanghai, China, View further author information

Wen-Bo YangDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, China, View further author information

Yan-Ni ZhouDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, China, ;Department of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai, China, ;Human Phenome Institute, Fudan University, Shanghai, ChinaView further author information

Jiu-Cun WangDepartment of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai, China, ;Human Phenome Institute, Fudan University, Shanghai, ChinaView further author information

Xiang-Jun ChenDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, China, ;Institute of Neurology, Fudan University, Shanghai, China, ;Human Phenome Institute, Fudan University, Shanghai, ChinaCorrespondence[email protected]
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Acknowledgements

The authors thank the patients and their families for their cooperation.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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Funding

Funding for this study is provided by the Subject of Basic Research Project of “Innovation Action Plan” of Shanghai Science and Technology Commission [17JC1400905] and the Shanghai Municipal Science and Technology Major Project [2017SHZDZX01].

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An exon 5 mutation (c.425G>C, p.Gly141Ala) in the SOD1 gene in a Chinese family associated with incomplete penetrance

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An exon 5 mutation (c.425G>C, p.Gly141Ala) in the SOD1 gene in a Chinese family associated with incomplete penetrance

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