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J Hepatol. 2006 Jan;44(1):240-2. Epub 2005 Nov 2.

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

Author information

1
Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China. ching-wanlam@cuhk.edu.hk

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.

PMID:
16290310
DOI:
10.1016/j.jhep.2005.09.013
[Indexed for MEDLINE]
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