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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Bibliographic Details
Published in:Sci Rep
Main Authors: 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
Language:Inglês
Published: Nature Publishing Group UK 2020
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Online Access: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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