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Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome

The syndromic autism spectrum disorder (ASD) Timothy syndrome (TS) is caused by a point mutation in the alternatively spliced exon 8A of the calcium channel Ca(v)1.2. Using mouse brain and human induced pluripotent stem cells (iPSCs), we provide evidence that the TS mutation prevents a normal develo...

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Detalhes bibliográficos
Publicado no:eLife
Main Authors: Panagiotakos, Georgia, Haveles, Christos, Arjun, Arpana, Petrova, Ralitsa, Rana, Anshul, Portmann, Thomas, Paşca, Sergiu P, Palmer, Theo D, Dolmetsch, Ricardo E
Formato: Artigo
Idioma:Inglês
Publicado em: eLife Sciences Publications, Ltd 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6964969/
https://ncbi.nlm.nih.gov/pubmed/31868578
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.51037
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