BOD1 Is Required for Cognitive Function in Humans and Drosophila

Here we report a stop-mutation in the BOD1 (Biorientation Defective 1) gene, which co-segregates with intellectual disability in a large consanguineous family, where individuals that are homozygous for the mutation have no detectable BOD1 mRNA or protein. The BOD1 protein is required for proper chro...

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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: Esmaeeli-Nieh, Sahar, Fenckova, Michaela, Porter, Iain M., Motazacker, M. Mahdi, Nijhof, Bonnie, Castells-Nobau, Anna, Asztalos, Zoltan, Weißmann, Robert, Behjati, Farkhondeh, Tzschach, Andreas, Felbor, Ute, Scherthan, Harry, Sayfati, Seyed Morteza, Ropers, H. Hilger., Kahrizi, Kimia, Najmabadi, Hossein, Swedlow, Jason R., Schenck, Annette, Kuss, Andreas W.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4864283/
https://ncbi.nlm.nih.gov/pubmed/27166630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006022
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