Article

The Solute Carrier Family 26 Member 9 Is a Modifier of the Rapidly Progressing Cystic Fibrosis Associated with F508del CFTR Mutations

2024-01-04

Abstract excerpt

Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations to the CF transmembrane conductance regulator ( CFTR ). Symptoms and severity of the disease vary shown that modifier genes influence disease severity and clinical course. We previously reported epithelial sodium channel (ENaC) genes as modifiers of disease severity in long-term non-progressors sharing deltaF508 homozygous for CFTR genotype...

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Literature Corpus work: b5c0b6ef-9402-51bd-b4ad-2205641a397e
DOI: 10.1101/2024.01.04.23300546

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