Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

KIF1A is a brain-specific anterograde motor protein that transports cargoes towards the plus-ends of microtubules. Many variants of the KIF1A gene have been associated with neurodegenerative diseases and developmental delay. Homozygous mutations of KIF1A have been identified in a recessive subtype o...

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Detalles Bibliográficos
Autores principales: Cheon, Chong Kun, Lim, So-Hee, Kim, Yoo-Mi, Kim, Doyoun, Lee, Na-Yoon, Yoon, Tae-Sung, Kim, Nam-Soon, Kim, Eunjoon, Lee, Jae-Ran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5624960/
https://www.ncbi.nlm.nih.gov/pubmed/28970574
http://dx.doi.org/10.1038/s41598-017-12999-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5624960/
https://www.ncbi.nlm.nih.gov/pubmed/28970574
http://dx.doi.org/10.1038/s41598-017-12999-9

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