Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID

BACKGROUND: SHANK proteins are crucial for the formation and plasticity of excitatory synapses. Although mutations in all three SHANK genes are associated with autism spectrum disorder (ASD), SHANK3 appears to be the major ASD gene with a prevalence of approximately 0.5% for SHANK3 mutations in ASD,...

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Detalles Bibliográficos
Autores principales: Cochoy, Daniela M, Kolevzon, Alexander, Kajiwara, Yuji, Schoen, Michael, Pascual-Lucas, Maria, Lurie, Stacey, Buxbaum, Joseph D, Boeckers, Tobias M, Schmeisser, Michael J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4455919/
https://www.ncbi.nlm.nih.gov/pubmed/26045941
http://dx.doi.org/10.1186/s13229-015-0020-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4455919/
https://www.ncbi.nlm.nih.gov/pubmed/26045941
http://dx.doi.org/10.1186/s13229-015-0020-5

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