Research Paper Volume 12, Issue 22 pp 22859—22868

Identification of novel FUS and TARDBP gene mutations in Chinese amyotrophic lateral sclerosis patients with HRM analysis

Figure 1. A novel splicing mutation, c.1541+1G>A in the FUS gene identified in a Chinese ALS patient. (A) The novel splicing mutation was identified by HRM analysis and direct sequencing. (B) The evolutionary conservation of the splicing mutation c.1541+1G>A are shown. (C) Minigene splicing analysis of the novel splice mutation. (D) Pedigree of the family. An arrowhead indicates the proband.