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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...

詳細記述

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書誌詳細
出版年:Sci Rep
主要な著者: Becker, Tim, Pich, Andreas, Tamm, Stephanie, Hedtfeld, Silke, Ibrahim, Mohammed, Altmüller, Janine, Dalibor, Nina, Toliat, Mohammad Reza, Janciauskiene, Sabina, Tümmler, Burkhard, Stanke, Frauke
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group UK 2020
主題:
オンライン・アクセス: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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