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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Pubblicato in:Hum Mol Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2016
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Articles
Accesso online: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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