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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