Mutation of the Variant [alpha]-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia

The critical importance of cytoskeletal function for correct neuronal migration during development of the cerebral cortex has been underscored by the identities of germline mutations underlying a number of human neurodevelopmental disorders. The proteins affected include TUBA1A, a major α-tubulin is...

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Veröffentlicht in:	American journal of human genetics 2009-11, Vol.85 (5), p.737-744
Hauptverfasser:	Abdollahi, Mohammad R, Morrison, Ewan, Sirey, Tamara, Molnar, Zoltan, Hayward, Bruce E, Carr, Ian M, Springell, Kelly, Woods, C Geoff, Ahmed, Mushtaq, Hattingh, Louise, Corry, Peter, Pilz, Daniela T, Stoodley, Neil, Crow, Yanick, Taylor, Graham R, Bonthron, David T, Sheridan, Eamonn
Format:	Artikel
Sprache:	eng
Schlagworte:	Brain Cell adhesion & migration Cytoskeleton Genetic disorders Mutation Neurons
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