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Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

BACKGROUND: Krüppel-type zinc finger genes (ZNF) constitute a large yet relatively poorly characterized gene family. ZNF genes encode proteins that recognize specific DNA motifs in gene promotors. They act as transcriptional co-activators or -repressors via interaction with chromatin remodeling prot...

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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: Stevens, Servi J. C., van Essen, Anthonie J., van Ravenswaaij, Conny M. A., Elias, Abdallah F., Haven, Jaclyn A., Lelieveld, Stefan H., Pfundt, Rolph, Nillesen, Willy M., Yntema, Helger G., van Roozendaal, Kees, Stegmann, Alexander P., Gilissen, Christian, Brunner, Han G.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5155377/
https://ncbi.nlm.nih.gov/pubmed/27964749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-016-0386-9
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