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NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

BACKGROUND: Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrimidine, the basic DNA and RNA components, are regulating the cell metabolism, ha...

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Detalles Bibliográficos
Autores principales:	Elsaid, Mahmoud F., Ibrahim, Khalid, Chalhoub, Nader, Elsotouhy, Ahmed, El Mudehki, Noora, Abdel Aleem, Alice
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359868/ https://www.ncbi.nlm.nih.gov/pubmed/28327087 http://dx.doi.org/10.1186/s12881-017-0395-6

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