SHANK1 Deletions in Males with Autism Spectrum Disorder

Recent studies have highlighted the involvement of rare (<1% frequency) copy-number variations and point mutations in the genetic etiology of autism spectrum disorder (ASD); these variants particularly affect genes involved in the neuronal synaptic complex. The SHANK gene family consists of three...

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Hauptverfasser: Sato, Daisuke, Lionel, Anath C., Leblond, Claire S., Prasad, Aparna, Pinto, Dalila, Walker, Susan, O'Connor, Irene, Russell, Carolyn, Drmic, Irene E., Hamdan, Fadi F., Michaud, Jacques L., Endris, Volker, Roeth, Ralph, Delorme, Richard, Huguet, Guillaume, Leboyer, Marion, Rastam, Maria, Gillberg, Christopher, Lathrop, Mark, Stavropoulos, Dimitri J., Anagnostou, Evdokia, Weksberg, Rosanna, Fombonne, Eric, Zwaigenbaum, Lonnie, Fernandez, Bridget A., Roberts, Wendy, Rappold, Gudrun A., Marshall, Christian R., Bourgeron, Thomas, Szatmari, Peter, Scherer, Stephen W.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2012
Schlagworte:
Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3376495/
https://ncbi.nlm.nih.gov/pubmed/22503632
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.03.017
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