Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Genetic defects such as copy number variations (CNVs) in non-coding regions containing conserved non-coding elements (CNEs) outside the transcription unit of their target gene, can underlie genetic disease. An example of this is the short stature homeobox (SHOX) gene, regulated by seven CNEs located...

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Vydáno v:Sci Rep
Hlavní autoři: Verdin, Hannah, Fernández-Miñán, Ana, Benito-Sanz, Sara, Janssens, Sandra, Callewaert, Bert, Waele, Kathleen De, Schepper, Jean De, François, Inge, Menten, Björn, Heath, Karen E., Gómez-Skarmeta, José Luis, Baere, Elfride De
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2015
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4668379/
https://ncbi.nlm.nih.gov/pubmed/26631348
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep17667
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