Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia

Hereditary spastic paraplegias (HSPs) are a group of rare neurodegenerative disorders. HSPs are complex disorders and are clinically and genetically heterogeneous. To date, more than 80 genes or genetic loci have been reported to be responsible for HSPs in a Mendelian-dependent manner. Most recently...

Descripción completa

Detalles Bibliográficos
Autores principales: Bian, Xinchao, Cheng, Guangying, Sun, Xinbo, Liu, Hongkun, Zhang, Xiangmao, Han, Yu, Li, Bo, Li, Ning
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8244911/
https://www.ncbi.nlm.nih.gov/pubmed/34191852
http://dx.doi.org/10.1371/journal.pone.0253871

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8244911/
https://www.ncbi.nlm.nih.gov/pubmed/34191852
http://dx.doi.org/10.1371/journal.pone.0253871

Ejemplares similares