Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

Mutations in the TUBB3 gene, encoding β-tubulin isotype III, were recently shown to be associated with various neurological syndromes which all have in common the ocular motility disorder, congenital fibrosis of the extraocular muscle type 3 (CFEOM3). Surprisingly and in contrast to previously descr...

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Auteurs principaux: Poirier, Karine, Saillour, Yoann, Bahi-Buisson, Nadia, Jaglin, Xavier H., Fallet-Bianco, Catherine, Nabbout, Rima, Castelnau-Ptakhine, Laetitia, Roubertie, Agathe, Attie-Bitach, Tania, Desguerre, Isabelle, Genevieve, David, Barnerias, Christine, Keren, Boris, Lebrun, Nicolas, Boddaert, Nathalie, Encha-Razavi, Féréchté, Chelly, Jamel
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2010
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3298850/
https://ncbi.nlm.nih.gov/pubmed/20829227
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq377
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