A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

Missense mutations in TUBB3, the gene that encodes the neuronal-specific protein β-tubulin isotype 3, can cause isolated or syndromic congenital fibrosis of the extraocular muscles, a form of complex congenital strabismus characterized by cranial nerve misguidance. One of the eight TUBB3 mutations r...

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Main Authors: Chew, Sheena, Balasubramanian, Ravikumar, Chan, Wai-Man, Kang, Peter B., Andrews, Caroline, Webb, Bryn D., MacKinnon, Sarah E., Oystreck, Darren T., Rankin, Jessica, Crawford, Thomas O., Geraghty, Michael, Pomeroy, Scott L., Crowley, William F., Jabs, Ethylin Wang, Hunter, David G., Grant, Patricia E., Engle, Elizabeth C.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2013
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3572929/
https://ncbi.nlm.nih.gov/pubmed/23378218
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aws345
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