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

Amyotroph Lateral Scler Frontotemporal Degener. 2020 Aug;21(5-6):473-476. doi: 10.1080/21678421.2020.1738496. Epub 2020 Mar 15.

Authors

Si-Qi Dong¹, Xiao-Ni Liu^{1

2}, Wen-Bo Yang¹, Yan-Ni Zhou^{1

3

4}, Jiu-Cun Wang^{3

4}, Xiang-Jun Chen^{1

2

4}

Affiliations

¹ Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
² Institute of Neurology, Fudan University, Shanghai, China.
³ Department of Anthropology and Human Genetics, School of Life Sciences, Fudan University, Shanghai, China.
⁴ Human Phenome Institute, Fudan University, Shanghai, China.

PMID: 32174179
DOI: 10.1080/21678421.2020.1738496

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Amyotrophic Lateral Sclerosis* / genetics
Asian People / genetics
China
DNA Mutational Analysis
Exons / genetics
Humans
Mutation / genetics
Pedigree
Penetrance
Superoxide Dismutase-1 / genetics

Substances

SOD1 protein, human
Superoxide Dismutase-1