Mutation screening and burden analysis of GLT8D1 in Chinese patients with amyotrophic lateral sclerosis,Neurobiology of Aging

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Mutation screening and burden analysis of GLT8D1 in Chinese patients with amyotrophic lateral sclerosis
Neurobiology of Aging ( IF 3.7 ) Pub Date : 2020-10-01 , DOI: 10.1016/j.neurobiolaging.2020.10.017
Bei Cao ₁ , Xiaojing Gu ₁ , Qianqian Wei ₁ , Chunyu Li ₁ , Yongping Chen ₁ , Ruwei Ou ₁ , Yanbing Hou ₁ , Lingyu Zhang ₁ , Tao Li ₂ , Wei Song ₁ , Bi Zhao ₁ , Ying Wu ₁ , Xueping Chen ₁ , Huifang Shang ₁

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Abstract The glycosyltransfersase 8 domain containing 1 (GLT8D1) gene was identified to be an amyotrophic lateral sclerosis (ALS) causative gene via pedigree co-segregation and burden analysis. In the current study, 977 Chinese sporadic ALS (sALS) cases and 47 Chinese familial ALS (fALS) cases underwent whole exome sequencing. Rare variants with MAF

更新日期：2020-10-01

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