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De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

Schizophrenia likely results from poorly understood genetic and environmental factors. We studied the gene encoding the synaptic protein SHANK3 in 285 controls and 185 schizophrenia patients with unaffected parents. Two de novo mutations (R1117X and R536W) were identified in two families, one being...

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Bibliografiske detaljer
Main Authors: Gauthier, Julie, Champagne, Nathalie, Lafrenière, Ronald G., Xiong, Lan, Spiegelman, Dan, Brustein, Edna, Lapointe, Mathieu, Peng, Huashan, Côté, Mélanie, Noreau, Anne, Hamdan, Fadi F., Addington, Anjené M., Rapoport, Judith L., DeLisi, Lynn E., Krebs, Marie-Odile, Joober, Ridha, Fathalli, Ferid, Mouaffak, Fayçal, Haghighi, Ali P., Néri, Christian, Dubé, Marie-Pierre, Samuels, Mark E., Marineau, Claude, Stone, Eric A., Awadalla, Philip, Barker, Philip A., Carbonetto, Salvatore, Drapeau, Pierre, Rouleau, Guy A.
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2010
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2867875/
https://ncbi.nlm.nih.gov/pubmed/20385823
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0906232107
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