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
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
Journal title :
Journal of Hepatology
