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A novel nonsense SOD1 mutation (p.Asn140Ter) in a sporadic amyotrophic lateral sclerosis case with rapid progression.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Nov 2021

Zhan Zexin, Shu Yaqing, Zhao Yipeng, Peng Jiewei, Qin Bing

Abstract excerpt

Sporadic amyotrophic lateral sclerosis (ALS; SALS) accounts for more than 90% of all cases of the fatal neurodegenerative disease ALS. Cu/Zn superoxide dismutase (SOD1) gene mutations are the confirmed causes of adult-onset ALS. Here, we report a novel nonsense mutation, c.417_418insT (p.Asn140Ter), in exon 5 of the SOD1 gene in a Chinese adult female patient with SALS who showed rapid disease progression. This...

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Amyotrophic Lateral Sclerosis
Codon, Nonsense
Mutation
Neurodegenerative Diseases
Superoxide Dismutase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Superoxide Dismutase-1

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PMID: 33448235
DOI: 10.1080/21678421.2021.1871629

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