Mild pulmonary, but severe hepatic disease in a cystic fibrosis patient homozygous for a frameshift mutation in the regulatory domain of the CFTR

The clinical phenotype of cystic fibrosis (CF) patients is very variable and it has been suggested that patients lacking the cystic fibrosis transmembrane conductance regulator (CFTR) have milder lung disease than those having an altered CFTR. However, on the basis of the large variation in lung fun...

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