Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

BACKGROUND: Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a...

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Detalles Bibliográficos
Autores principales: Correia, Catarina T, Conceição, Inês C, Oliveira, Bárbara, Coelho, Joana, Sousa, Inês, Sequeira, Ana F, Almeida, Joana, Café, Cátia, Duque, Frederico, Mouga, Susana, Roberts, Wendy, Gao, Kun, Lowe, Jennifer K, Thiruvahindrapuram, Bhooma, Walker, Susan, Marshall, Christian R, Pinto, Dalila, Nurnberger, John I, Scherer, Stephen W, Geschwind, Daniel H, Oliveira, Guiomar, Vicente, Astrid M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098665/
https://www.ncbi.nlm.nih.gov/pubmed/24720851
http://dx.doi.org/10.1186/2040-2392-5-28

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