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Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred

BACKGROUND: The hereditary spastic paraplegias (HSPs) are pleiomorphic disorders of motor pathway and a large number of affected genes have been discovered. Yet, mutations in SPG4/SPAST represent the most frequent molecular etiology in autosomal dominant (AD) patients and sporadic cases. We describe...

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Detalles Bibliográficos
Autores principales:	Racis, Loretta, Storti, Eugenia, Pugliatti, Maura, Agnetti, Virgilio, Tessa, Alessandra, Santorelli, Filippo M
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3974227/ https://www.ncbi.nlm.nih.gov/pubmed/24690193 http://dx.doi.org/10.1186/1471-2350-15-39

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