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A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2
Ching-Wan Lam1, Ka-Ming Cheung, Man-Shan Tsui
1Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China. ching-wanlam@cuhk.edu.hk
Journal of Hepatology
|November 18, 2005
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.

