期刊
JOURNAL OF HEPATOLOGY
卷 44, 期 1, 页码 240-242出版社
ELSEVIER
DOI: 10.1016/j.jhep.2005.09.013
关键词
benign recurrent intrahepatic cholestasis; BRIC2; progressive familial intrahepatic cholestasis; PFIC2; ABCB11 gene
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. 1498T and 2098delA. The correlation of the patient's genotypes with the clinical course supports the existence of a phenotypic continuum between BRIC2 and PFIC2. (c) 2005 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.
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