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Haploinsufficiency of autism spectrum disorder candidate gene NUAK1 impairs cortical development and behavior in mice

Recently, numerous rare de novo mutations have been identified in patients diagnosed with autism spectrum disorders (ASD). However, despite the predicted loss-of-function nature of some of these de novo mutations, the affected individuals are heterozygous carriers, which would suggest that most of t...

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Detalles Bibliográficos
Autores principales: Courchet, Virginie, Roberts, Amanda J., Meyer-Dilhet, Géraldine, Del Carmine, Peggy, Lewis, Tommy L., Polleux, Franck, Courchet, Julien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191442/
https://www.ncbi.nlm.nih.gov/pubmed/30327473
http://dx.doi.org/10.1038/s41467-018-06584-5