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Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy
BACKGROUND: Hereditary spastic paraplegia is a rare familial hereditary neurodegenerative disease caused by multiple autosomal dominant mutations. More than 50 mutant genes have been reported to be associated with this disease. METHODS: In this study, we have reported a rare insertion mutation site...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8183916/ https://www.ncbi.nlm.nih.gov/pubmed/33826176 http://dx.doi.org/10.1002/jcla.23772 |