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Genotype-phenotype correlations in a chinese population with familial amyotrophic lateral sclerosis

25 Aug 2021

Abstract excerpt

Objective This study aimed to determine the distribution of the most commonly mutated genes (SOD1, TARDBP, FUS/TLS, and C9ORF72) associated with familial amyotrophic lateral sclerosis (FALS) and the association between genotype and phenotype in 242 Chinese patients.Methods A total of 58 families were screened for ALS-associated mutations in SOD1，TARDBP, FUS, and C9ORF72 hexanucleotide repeat expansion. These...

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PMID: 34431456
DOI: 10.1080/01616412.2021.1968706

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