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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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 2010-04, Vol.107 (17), p.7863-7868
Hauptverfasser:	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., the S2D Team, Housman, David E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Animals Autism Base Sequence Biological Sciences Brothers Carrier Proteins - genetics Computational Biology Danio rerio DNA Primers - genetics Female Genetic loci Genetic mutation Genetics Genotype & phenotype Humans Intelligence quotient Male Medical genetics Messenger RNA Microsatellite Repeats - genetics Molecular Sequence Data Mutation Mutation, Missense - genetics Nerve Tissue Proteins - genetics Neurons Neurons - cytology Parents Pedigree Phenotypes Proteins Rats Schizophrenia Schizophrenia - genetics Sequence Analysis, DNA Zebrafish
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