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

CFTR 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 therapeutic target...

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Detalles Bibliográficos
Autores principales:	Stanke, Frauke, Becker, Tim, Ismer, Haide Susanne, Dunsche, Inga, Hedtfeld, Silke, Kontsendorn, Julia, Dittrich, Anna-Maria, Tümmler, Burkhard
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535344/ https://www.ncbi.nlm.nih.gov/pubmed/34680949 http://dx.doi.org/10.3390/genes12101554

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