Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

SHANK3 is located on chromosome 22q13.3 and encodes a scaffold protein that is found in excitatory synapses opposite the pre-synaptic active zone . SHANK3 is a binding partner of neuroligins, some of whose genes contain mutations in a small subset of individuals with autism. In individuals with auti...

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Veröffentlicht in:	European journal of human genetics : EJHG 2009-10, Vol.17 (10), p.1347-1353
Hauptverfasser:	Sykes, Nuala H, Toma, Claudio, Wilson, Natalie, Volpi, Emanuela V, Sousa, Inês, Pagnamenta, Alistair T, Tancredi, Raffaella, Battaglia, Agatino, Maestrini, Elena, Bailey, Anthony J, Monaco, Anthony P
Format:	Artikel
Sprache:	eng
Schlagworte:	Association analysis Autism Autistic Disorder - genetics Bioinformatics Biological and medical sciences Biomedical and Life Sciences Biomedicine Carrier Proteins Child clinical studies Chromosome 22 Chromosome Aberrations Cohort Studies Consortia Copy number Cytogenetics Developmental disorders Disease Progression Female Fundamental and applied biological sciences. Psychology Gene Expression General aspects. Genetic counseling Genetic Predisposition to Disease Genetic Variation Genetics Genetics of eukaryotes. Biological and molecular evolution Genomes Genotype Human Genetics Humans In Situ Hybridization, Fluorescence Infantile autism Intellectual disabilities Italy Male Medical genetics Medical sciences Models, Genetic Molecular and cellular biology Mutation Nerve Tissue Proteins Proteins Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry Single-nucleotide polymorphism Studies Synapses - genetics
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