טוען...
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8
BACKGROUND: The hereditary spastic paraplegias (HSPs) are rare neurodegenerative gait disorders which are genetically highly heterogeneous. For each single form, eventual consideration of therapeutic strategies requires an understanding of the mechanism by which mutations confer pathogenicity. SPG8...
שמור ב:
| הוצא לאור ב: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BioMed Central
2015
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4647479/ https://ncbi.nlm.nih.gov/pubmed/26572744 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0359-x |
| תגים: |
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