Consistent Assignment of Risk and Benign Allele at rs2303153 in the CF Modifier Gene <i>SCNN1B</i> in Three Independent F508del-<i>CFTR</i> Homozygous Patient Populations

Consistent Assignment of Risk and Benign Allele at rs2303153 in the CF Modifier Gene <i>SCNN1B</i> in Three Independent F508del-<i>CFTR</i> Homozygous Patient Populations

<i>CFTR</i> encodes for a chloride and bicarbonate channel expressed at the apical membrane of polarized epithelial cells. Transepithelial sodium transport mediated by the amiloride-sensitive sodium channel ENaC is thought to contribute to the manifestation of CF disease. Thus, ENaC is a...

Full description

Bibliographic Details
Main Authors: Frauke Stanke, Tim Becker, Haide Susanne Ismer, Inga Dunsche, Silke Hedtfeld, Julia Kontsendorn, Anna-Maria Dittrich, Burkhard Tümmler
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:Genes
Subjects:
cystic fibrosis
association study
modifier gene
amiloride-sensitive sodium channel ENaC
Online Access:https://www.mdpi.com/2073-4425/12/10/1554

Internet

https://www.mdpi.com/2073-4425/12/10/1554

Similar Items