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

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

Abstract 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 resp...

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Autores principales: Tim Becker, Andreas Pich, Stephanie Tamm, Silke Hedtfeld, Mohammed Ibrahim, Janine Altmüller, Nina Dalibor, Mohammad Reza Toliat, Sabina Janciauskiene, Burkhard Tümmler, Frauke Stanke
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2020
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/dcc752896878496ebfa52dadd5b3f362
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