Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects

Sequencing of neurofilament genes identified NEFH Ser787Arg as a novel risk variant of sporadic amyotrophic lateral sclerosis in Chinese subjects

Abstract Background Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with neuronal cell inclusions composed of neurofilaments and other abnormal aggregative proteins as pathological hallmarks. Approximately 90% of patients have sporadic cases (sALS), and at least 4 gene...

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Hlavní autoři: Feng Lin, Wanhui Lin, Chaofeng Zhu, Jilan Lin, Junge Zhu, Xu-Ying Li, Zhanjun Wang, Chaodong Wang, Huapin Huang
Médium: Článek
Jazyk:English
Vydáno: BMC 2021-09-01
Edice:BMC Medical Genomics
Témata:
Sporadic amyotrophic lateral sclerosis
Neurofilament genes
Rare variant
Association
On-line přístup:https://doi.org/10.1186/s12920-021-01073-z

Internet

https://doi.org/10.1186/s12920-021-01073-z

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