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Article

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

23 May 2018

Abstract excerpt

We evaluated the genetic contribution of the T cell-restricted intracellular antigen-1 gene (TIA1) in a European cohort of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) patients. Exonic resequencing of TIA1 in 1120 patients (693 FTD, 341 ALS, 86 FTD-ALS) and 1039 controls identified in total 5 rare heterozygous missense variants, affecting the TIA1 low-complexity domain (LCD). Only 1...

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PMID: 29886022
DOI: 10.1016/j.neurobiolaging.2018.05.005

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