ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression

Conclusions Cholangiopathies attributable to highly penetrant ABCB4 mutant alleles are identifiable in a substantial proportion of adults that generally have PFH-CLD. In PSC and ICC phenotypes, patients with MDR3 deficiency have early onset of disease.
Source: Journal of Gastroenterology - Category: Gastroenterology Source Type: research