Rare deleterious mutations of the gene EFR3A in autism spectrum disorders

BACKGROUND: Whole-exome sequencing studies in autism spectrum disorder (ASD) have identified de novo mutations in novel candidate genes, including the synaptic gene Eighty-five Requiring 3A (EFR3A). EFR3A is a critical component of a protein complex required for the synthesis of the phosphoinositide...

Descripción completa

Detalles Bibliográficos
Autores principales: Gupta, Abha R, Pirruccello, Michelle, Cheng, Feng, Kang, Hyo Jung, Fernandez, Thomas V, Baskin, Jeremy M, Choi, Murim, Liu, Li, Ercan-Sencicek, Adife Gulhan, Murdoch, John D, Klei, Lambertus, Neale, Benjamin M, Franjic, Daniel, Daly, Mark J, Lifton, Richard P, De Camilli, Pietro, Zhao, Hongyu, Šestan, Nenad, State, Matthew W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4032628/
https://www.ncbi.nlm.nih.gov/pubmed/24860643
http://dx.doi.org/10.1186/2040-2392-5-31

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4032628/
https://www.ncbi.nlm.nih.gov/pubmed/24860643
http://dx.doi.org/10.1186/2040-2392-5-31

Ejemplares similares