Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.

Elsemieke de VriesMarta MazzettiBart TakkenbergNahid MostafaviHennie BikkerMarco MarzioniRozanne de VeerAdriaan van der MeerMichael DoukasJoanne VerheijUlrich H W Beuers

Published in: Liver international : official journal of the International Association for the Study of the Liver (2021)

ABCB4 deficiency has a mild clinical course, but impaired quality of life and limited risk of CCA. The Nakanuma scoring system appears feasible for histological evaluation in ABCB4 deficiency.

Keyphrases

copy number
replacement therapy
genome wide
dna methylation
transcription factor
breast cancer risk