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Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway
Mutation in a growing spectrum of genes is known to either cause or contribute to primary or secondary microcephaly. In primary microcephaly the genetic determinants frequently involve mutations that contribute to or modulate the microtubule cytoskeleton by causing perturbations of neuronal prolifer...
Enregistré dans:
| Publié dans: | Hum Mol Genet |
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| Auteurs principaux: | , , , , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Oxford University Press
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6459059/ https://ncbi.nlm.nih.gov/pubmed/28158450 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw292 |
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