PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features

Protein homeostasis is tightly regulated by the ubiquitin proteasome pathway. Disruption of this pathway gives rise to a host of neurological disorders. Through whole exome sequencing (WES) in families with neurodevelopmental disorders, we identified mutations in PSMD12, a core component of the prot...

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Bibliografski detalji
Izdano u:Am J Med Genet B Neuropsychiatr Genet
Glavni autori: Khalil, Raida, Kenny, Connor, Hill, R. Sean, Mochida, Ganeshwaran H., Nasir, Ramzi H., Partlow, Jennifer N., Barry, Brenda J., Al-Saffar, Muna, Egan, Chloe, Stevens, Christine R., Gabriel, Stacey B., Barkovich, A. James, Ellison, Jay W., Al-Gazali, Lihadh, Walsh, Christopher A., Chahrour, Maria H.
Format: Artigo
Jezik:Inglês
Izdano: 2018
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6261799/
https://ncbi.nlm.nih.gov/pubmed/30421579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.b.32688
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