Functional characterization of TBR1 variants in neurodevelopmental disorder

Recurrent de novo variants in the TBR1 transcription factor are implicated in the etiology of sporadic autism spectrum disorders (ASD). Disruptions include missense variants located in the T-box DNA-binding domain and previous work has demonstrated that they disrupt TBR1 protein function. Recent scr...

Descripción completa

Detalles Bibliográficos
Autores principales: den Hoed, Joery, Sollis, Elliot, Venselaar, Hanka, Estruch, Sara B., Deriziotis, Pelagia, Fisher, Simon E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6155134/
https://www.ncbi.nlm.nih.gov/pubmed/30250039
http://dx.doi.org/10.1038/s41598-018-32053-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6155134/
https://www.ncbi.nlm.nih.gov/pubmed/30250039
http://dx.doi.org/10.1038/s41598-018-32053-6

Ejemplares similares