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Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome

Single nucleotide variants (SNV) in the gene encoding the MET receptor tyrosine kinase have been associated with an increased risk for autism spectrum disorders (ASD). The MET promoter SNV rs1858830 C ‘low activity' allele is enriched in ASD, associated with reduced protein expression, and impa...

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Detalles Bibliográficos
Autores principales: Plummer, J T, Evgrafov, O V, Bergman, M Y, Friez, M, Haiman, C A, Levitt, P, Aldinger, K A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3818007/
https://www.ncbi.nlm.nih.gov/pubmed/24150225
http://dx.doi.org/10.1038/tp.2013.91