Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis

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 still n...

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Detalles Bibliográficos
Autores principales: Li, Chunyu, Hou, Yanbing, Wei, Qianqian, Lin, Junyu, Jiang, Zheng, Jiang, Qirui, Yang, Tianmi, Xiao, Yi, Huang, Jingxuan, Cheng, Yangfan, Ou, Ruwei, Liu, Kuncheng, Chen, Xueping, Song, Wei, Zhao, Bi, Wu, Ying, Cao, Bei, Chen, Yongping, Shang, Huifang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Correspondence
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10040122/
https://www.ncbi.nlm.nih.gov/pubmed/36966328
http://dx.doi.org/10.1186/s40246-023-00479-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10040122/
https://www.ncbi.nlm.nih.gov/pubmed/36966328
http://dx.doi.org/10.1186/s40246-023-00479-3

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