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Novel Frameshift Heterozygous Mutation in UBAP1 Gene Causing Spastic Paraplegia-80: Case Report With Literature Review
Hereditary spastic paraplegia (HSP) represents a group of rare inherited neurodegenerative conditions and is characterized by progressive lower limb spasticity. Ubiquitin-associated protein 1 (UBAP1)-related HSP is classified as spastic paraplegia-80 (SPG80), which is an autosomal-dominant (AD) juve...
Główni autorzy: | , , , , , , , , , |
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Format: | Online Artykuł Texto |
Język: | English |
Wydane: |
Frontiers Media S.A.
2022
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Hasła przedmiotowe: | |
Dostęp online: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8936171/ https://www.ncbi.nlm.nih.gov/pubmed/35321509 http://dx.doi.org/10.3389/fneur.2022.820202 |