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

Internet

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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