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A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3

Autism spectrum disorder is a genetically complex and clinically heterogeneous neurodevelopmental disorder. A recent study by the Autism Genome Project (AGP) used 1M single-nucleotide polymorphism arrays to show that rare genic copy number variants (CNVs), possibly acting in tandem, play a significa...

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Detalles Bibliográficos
Autores principales: Pagnamenta, Alistair T., Holt, Richard, Yusuf, Mohammed, Pinto, Dalila, Wing, Kirsty, Betancur, Catalina, Scherer, Stephen W., Volpi, Emanuela V., Monaco, Anthony P.
Formato: Texto
Lenguaje:English
Publicado: Springer US 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3105230/
https://www.ncbi.nlm.nih.gov/pubmed/21484199
http://dx.doi.org/10.1007/s11689-011-9076-5