Hereditary spastic paraplegia associated with a rare IFIH1 mutation: a case report and literature review

Here, the pathogenesis of an IFIH1 gene mutation is discussed through the analysis of a sporadic case of hereditary spastic paraplegia. Next-generation sequencing was performed for the patient and his family members to detect mutations at the IFIH1 locus. The patient and his father were found to car...

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Detalles Bibliográficos
Autores principales: Liu, Nan, Chen, Jiajun, Xu, Chuan, Shi, Tianji, Li, Jia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693153/
https://www.ncbi.nlm.nih.gov/pubmed/31427910
http://dx.doi.org/10.1186/s41065-019-0104-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693153/
https://www.ncbi.nlm.nih.gov/pubmed/31427910
http://dx.doi.org/10.1186/s41065-019-0104-x

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