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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Publié dans:Hum Mol Genet
Auteurs principaux: 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
Langue:Inglês
Publié: Oxford University Press 2016
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Articles
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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