De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ

BACKGROUND: A spontaneous de novo mutation is a new mutation appeared in a child that neither the parent carries. Recent studies suggest that recurrent de novo loss-of-function mutations identified in patients with sporadic autism spectrum disorder (ASD) play a key role in the etiology of the disord...

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Veröffentlicht in:J Mol Psychiatry
Hauptverfasser: Matsumura, Kensuke, Nakazawa, Takanobu, Nagayasu, Kazuki, Gotoda-Nishimura, Nanaka, Kasai, Atsushi, Hayata-Takano, Atsuko, Shintani, Norihito, Yamamori, Hidenaga, Yasuda, Yuka, Hashimoto, Ryota, Hashimoto, Hitoshi
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2016
Schlagworte:
Short Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4839133/
https://ncbi.nlm.nih.gov/pubmed/27103995
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40303-016-0016-x
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