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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...

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Bibliografski detalji
Izdano u:Hum Mol Genet
Glavni autori: Edvardson, Shimon, Tian, Guoling, Cullen, Hayley, Vanyai, Hannah, Ngo, Linh, Bhat, Saiuj, Aran, Adi, Daana, Muhannad, Da’amseh, Naderah, Abu-Libdeh, Bassam, Cowan, Nicholas J., Heng, Julian Ik-Tsen, Elpeleg, Orly
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2016
Teme:
Online pristup: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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