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RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation

X-linked intellectual disability (XLID) is a heterogeneous syndrome affecting mainly males. Human genetics has identified >100 XLID genes, although the molecular and developmental mechanisms underpinning this disorder remain unclear. Here, we employ an embryonic stem cell model to explore develop...

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Detalles Bibliográficos
Autores principales: Bustos, Francisco, Segarra-Fas, Anna, Chaugule, Viduth K., Brandenburg, Lennart, Branigan, Emma, Toth, Rachel, Macartney, Thomas, Knebel, Axel, Hay, Ronald T., Walden, Helen, Findlay, Greg M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976579/
https://www.ncbi.nlm.nih.gov/pubmed/29742418
http://dx.doi.org/10.1016/j.celrep.2018.04.022