Article
Identification of novel FUS and TARDBP gene mutations in Chinese amyotrophic lateral sclerosis patients with HRM analysis.
Aging - 5 Nov 2020
Wang Feng, Fu Shengyu, Lei Jiafan, Wu Hongchen, Shi Shugui, Chen Kangning, Hu Jun, Xu Xueqing
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive loss of motor neurons. More than 30 genes have been linked to ALS to date, including FUS and TARDBP, which exhibit similar roles in RNA metabolism. This study explored the use of high-resolution melting (HRM) analysis to screen for FUS and TARDBP mutation hotspot regions in 146 Chinese ALS patients, which achieved 100%...
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