A novel mutation in the UBAP1 gene causing hereditary spastic paraplegia: A case report and overview of the genotype-phenotype correlation

Hereditary Spastic Paraplegia (HSP) is considered to be one of the common neurodegenerative diseases with marked genetic heterogeneity. Recently, the mutations in ubiquitin-associated protein 1 (UBAP1) have been described in patients with HSP, known as spastic paraplegias 80 (SPG80). Here, we report...

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Detalles Bibliográficos
Autores principales: Li, Peiqiang, Huang, Xiande, Chai, Senmao, Zhu, Dalin, Huang, Huirong, Ma, Fengdie, Zhang, Shasha, Xie, Xiaodong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9344137/
https://www.ncbi.nlm.nih.gov/pubmed/35928447
http://dx.doi.org/10.3389/fgene.2022.936292

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9344137/
https://www.ncbi.nlm.nih.gov/pubmed/35928447
http://dx.doi.org/10.3389/fgene.2022.936292

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