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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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| Publié dans: | Sci Rep |
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| Auteurs principaux: | , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Nature Publishing Group UK
2017
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5624960/ https://ncbi.nlm.nih.gov/pubmed/28970574 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-12999-9 |
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