Title of article
A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2
Author/Authors
Ching-Wan Lam، نويسنده , , Ka-Ming Cheung، نويسنده , , Man-Shan Tsui، نويسنده , , Matthew Shu-Ching Yan، نويسنده , , Ching-Yin Lee، نويسنده , , Sui-Fan Tong، نويسنده ,
Issue Information
روزنامه با شماره پیاپی سال 2006
Pages
3
From page
240
To page
242
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 patientʹs genotypes with the clinical course supports the existence of a phenotypic continuum between BRIC2 and PFIC2.
Keywords
Progressive familial intrahepatic cholestasis , PFIC2 , Benign recurrent intrahepatic cholestasis , BRIC2 , ABCB11 gene
Journal title
Journal of Hepatology
Serial Year
2006
Journal title
Journal of Hepatology
Record number
581051
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