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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...

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Detalles Bibliográficos
Autores principales: Wang, Zhaoyu, Dong, Huijie, Ji, Xiaofei, Luan, Siyu, Cao, Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
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