Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene
Abstract 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...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , , , , |
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| Fformat: | Artigo |
| Iaith: | Saesneg |
| Cyhoeddwyd: |
2017
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| Mynediad Ar-lein: | https://doi.org/10.1038/s41598-017-12999-9 https://www.nature.com/articles/s41598-017-12999-9.pdf |
| Tagiau: |
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