Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis

Abstract Background Recently, several rare variants of SPTLC1 were identified as disease cause for juvenile amyotrophic lateral sclerosis (ALS) by disrupting the normal homeostatic regulation of serine palmitoyltransferase (SPT). However, further exploration of the rare variants in large cohorts was...

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Autors principals:	Chunyu Li, Yanbing Hou, Qianqian Wei, Junyu Lin, Zheng Jiang, Qirui Jiang, Tianmi Yang, Yi Xiao, Jingxuan Huang, Yangfan Cheng, Ruwei Ou, Kuncheng Liu, Xueping Chen, Wei Song, Bi Zhao, Ying Wu, Bei Cao, Yongping Chen, Huifang Shang
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2023-03-01
Col·lecció:	Human Genomics
Matèries:	Amyotrophic lateral sclerosis Rare variant SPTLC1 SPTLC2
Accés en línia:	https://doi.org/10.1186/s40246-023-00479-3
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