Article

SOD1 mutation spectrum and natural history of ALS patients in a 15-year Cohort in Southeastern China

2021-07-27

Abstract excerpt

<h4>Background: </h4> Mutations in superoxide dismutase 1 gene ( SOD1 ) are the most frequent high penetrant genetic cause for amyotrophic lateral sclerosis (ALS) in the Chinese population. A detailed natural history of SOD1 -mutated ALS patients will provide key information for ongoing genetic clinical trials. Methods We screened for SOD1 mutations using whole exome sequencing (WES) in Chinese ALS cases from 201...

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Literature Corpus work: 2b1ca423-08cf-519a-909f-b4542c63d0db
DOI: 10.21203/rs.3.rs-726817/v1

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