Article
[SLC6A14, a modifier gene in cystic fibrosis].
Revue des maladies respiratoires - 1 Mar 2020
Ruffin M, Mercier J, Calmel C, Mésinèle J, Corvol H, Guillot L
Abstract excerpt
Although cystic fibrosis is a monogenic disease, a considerable clinical phenotypic variability is observed in patients with the same CFTR mutations. Thanks to the development of new and powerful tools for carrying out genetic studies, several genes called "modifier genes" have been identified as being associated with the severity of the lung function disorder in cystic fibrosis patients. Among these genes,...
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