A 2-year-old girl who is exhibiting a failure to thrive is diagnosed with hepatic failure and cholestasis. Her pediatrician suspects the girl is suffering from familial intrahepatic cholestasis. Which of the following genes is likely harboring a mutation resulting in the observed symptoms?
A) 7a-hydroxylase (CYP7A1)
B) bile salt export pump (BSEP)
C) farnesoid X receptor (FXR)
D) pregnane X receptor (PXR)
E) sodium (Na+) -taurocholate cotransporting polypeptide (NTCP)
Correct Answer:
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