Condition: Cholestasis, benign recurrent intrahepatic 2


rs121908935 in ABCB11 gene and Cholestasis, benign recurrent intrahepatic 2 PMID 15300568 2004 Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.

PMID 16039748 2005 The intron 4 (+3)A > C, R930X and R432T represent previously undescribed mutations of the ABCB11 gene that confer a PFIC2 and a BRIC2 phenotype, respectively.

PMID 16039748 2005 Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis.