A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2.

Abstract:

:We describe a PFIC2 patient with a good response to ursodeoxycholic acid for 9 years. We found two novel ABCB11 gene mutations in the patient, i.e. I498T and 2098delA. The correlation of the patient's genotypes with the clinical course supports the existence of a phenotypic continuum between BRIC2 and PFIC2.

journal_name

J Hepatol

journal_title

Journal of hepatology

authors

Lam CW,Cheung KM,Tsui MS,Yan MS,Lee CY,Tong SF

doi

10.1016/j.jhep.2005.09.013

subject

Has Abstract

pub_date

2006-01-01 00:00:00

pages

240-2

issue

1

eissn

0168-8278

issn

1600-0641

pii

S0168-8278(05)00662-8

journal_volume

44

pub_type

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