Hepatology. 2013 Jun;57(6):2539-41.
Moghadamrad S, Montani M, Weimann R, De Gottardi A.
http://www.ncbi.nlm.nih.gov/pubmed/23446990

Cholestasis with normal gamma glutamyl transferase characterizes functional deficiencies
in the gene ABCB11, which encodes the bile salt export pump (BSEP), a liver-specific
adenosine triphosphate (ATP)-binding cassette transporter. Here we report the case of a
patient presenting with features of benign recurrent intrahepatic cholestasis associated
with a heterozygous mutation in the ABCB11 gene. Immunohistochemistry showed a
gradual decrease of BSEP from zone 1 to zone 3 of the liver lobule, suggesting that the
mutation identified here may predispose patients to cholestasis through a delocalization
process of BSEP at the lobular level.