Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B

SCNN1B encodes the beta subunit of the epithelial sodium channel ENaC. Previously, we reported an association between SNP markers of SCNN1B gene and disease severity in cystic fibrosis-affected sibling pairs. We hypothesized that factors interacting with the SCNN1B genomic sequence are responsible f...

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Veröffentlicht in:Sci Rep
Hauptverfasser: Becker, Tim, Pich, Andreas, Tamm, Stephanie, Hedtfeld, Silke, Ibrahim, Mohammed, Altmüller, Janine, Dalibor, Nina, Toliat, Mohammad Reza, Janciauskiene, Sabina, Tümmler, Burkhard, Stanke, Frauke
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2020
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7775467/
https://ncbi.nlm.nih.gov/pubmed/33384439
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-79804-y
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