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Genetic study of the NMDA receptor associated multi-protein complex in autism characterization of variable complexity genetic models

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Thèse de doctorat : Sciences de la Vie et de la Santé : Tours : 2015

Autism is a developmental disorder of the central nervous system defined by impairments in social interaction and communication, and by restricted and repetitive behavior. Its prevalence is currently estimated at around 1% in the general population. Autism is characterized by a wide heterogeneity at both phenotypic and genetic level. To date, more than 300 candidate genes were characterized either by copy number variations (CNV) and/or nucleotide variations (SNV). Their identification has highlighted a significant contribution of de novo mutations, as well as the involvement of targeted pathophysiological pathways, particularly post-synaptic density (PSD).

  • Dates
    Published on March 31, 2015, Created on March 31, 2015