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A new case of spastic paraplegia type 64 due to a missense mutation in the ENTPD1 gene

Spastic paraplegia type 64 (SPG64; OMIM 615683) is a complicated form of hereditary spastic paraplegia (HSP) recently identified in individuals diagnosed with suspected neurodegenerative disease. Affected patients carry homozygous mutations in the ectonucleoside triphosphate diphosphohydrolase 1 gen...

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Detalles Bibliográficos
Autores principales:	Mamelona, Jean, Crapoulet, Nicolas, Marrero, Alier
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329766/ https://www.ncbi.nlm.nih.gov/pubmed/30652007 http://dx.doi.org/10.1038/s41439-018-0036-4

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