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TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes
Hypomyelinating leukodystrophies are heritable disorders defined by lack of development of brain myelin, but the cellular mechanisms of hypomyelination are often poorly understood. Mutations in TUBB4A, encoding the tubulin isoform tubulin beta class IVA (Tubb4a), result in the symptom complex of hyp...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Hum Mol Genet |
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| Prif Awduron: | , , , , , , , , , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Oxford University Press
2017
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7462055/ https://ncbi.nlm.nih.gov/pubmed/28973395 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx338 |
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