De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia - 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.; et al. (Proceedings of the National Academy of Sciences - PNAS, 2010)
Keywords: Amino Acid Sequence; Animals; Autism; Base Sequence; Biological Sciences; Brothers; Carrier Proteins - genetics; Computational Biology; Danio rerio; DNA Primers - genetics; Environmental factors; Female; genes; Genetic loci; Genetic mutation; Genetics; Genotype & phenotype; germ cells; Humans; Intelligence quotient; Male; Medical genetics; Mental disorders; Messenger RNA; Microsatellite Repeats - genetics; Molecular Sequence Data; mutants; Mutation; Mutation, Missense - genetics; Nerve Tissue Proteins - genetics; Neurons; Neurons - cytology; Parents; patients; Pedigree; phenotype; Phenotypes; Proteins; Rats; scaffolding proteins; Schizophrenia; Schizophrenia - genetics; Sequence Analysis, DNA; Zebrafish