Article

Identification of TARDBP Gly298Ser as a Founder Mutation for Amyotrophic Lateral Sclerosis in Southern China

2022-02-10

Abstract excerpt

<h4>Background: </h4> Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by predominant impairment of upper and lower motor neurons. Over 50 TARDBP mutations have been reported in both familial (FALS) and sporadic ALS (SALS). Some mutations in TARDBP, e.g. A382T and G294V, have genetic founder effects in certain geographic regions. However, such prevalence and founder effe...

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Literature Corpus work: a9d568e6-24b1-533b-8cf5-b5c552287373
DOI: 10.21203/rs.3.rs-1172380/v1

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