TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

We previously showed that mutations in LIS1 and DCX account for ∼85% of patients with the classic form of lissencephaly (LIS). Some rare forms of LIS are associated with a disproportionately small cerebellum, referred to as lissencephaly with cerebellar hypoplasia (LCH). Tubulin alpha1A (TUBA1A), en...

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Detalhes bibliográficos
Main Authors: Kumar, Ravinesh A., Pilz, Daniela T., Babatz, Timothy D., Cushion, Thomas D., Harvey, Kirsten, Topf, Maya, Yates, Laura, Robb, Stephanie, Uyanik, Gökhan, Mancini, Gracia M.S., Rees, Mark I., Harvey, Robert J., Dobyns, William B.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2010
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2893812/
https://ncbi.nlm.nih.gov/pubmed/20466733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq182
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