Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.

  title={Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.},
  author={Kelly L Williams and E P McCann and Jennifer A. Fifita and Katharine Y. Zhang and Emma L. Duncan and Paul J Leo and Mhairi S Marshall and Dominic B Rowe and Garth A. Nicholson and Ian P. Blair},
  journal={Neurobiology of aging},
  volume={36 12},
Missense and frameshift mutations in TRAF family member-associated NF-kappa-B activator (TANK)-binding kinase 1 (TBK1) have been reported in European sporadic and familial amyotrophic lateral sclerosis (ALS) cohorts. To assess the role of TBK1 in ALS patient cohorts of wider ancestry, we have analyzed whole-exome sequence data from an Australian cohort of familial ALS (FALS) patients and controls. We identified a novel TBK1 deletion (c.1197delC) in a FALS patient of Chinese origin. This… CONTINUE READING
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