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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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839133/ https://www.ncbi.nlm.nih.gov/pubmed/27103995 http://dx.doi.org/10.1186/s40303-016-0016-x |