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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2019
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| Materias: | |
| 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 |