TBK1 variants in Chinese patients with amyotrophic lateral sclerosis.

Abstract excerpt

TBK1 has been reported as a risk gene of amyotrophic lateral sclerosis (ALS). We screened TBK1 variants in 69 familial ALS patients and 608 sporadic ALS patients from mainland China. All 20 coding exons and the exon-intron flanking regions of TBK1 were amplified and sequenced using Sanger sequencing. In total, we identified eight missense variants and one suspicious splice site mutation. The patient with K291R...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amyotrophic Lateral Sclerosis
• Share to Asian People
• Share to China