PMID: 12671900

Lucena JF, Herrero JI, Quiroga J, Sangro B, Garcia-Foncillas J, Zabalegui N, Sola J, Herraiz M, Medina JF, Prieto J
A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis.
Gastroenterology. 2003 Apr;124(4):1037-42., [PubMed]
Sentences
No. Mutations Sentence Comment
60 ABCB4 p.Gly535Asp
X
ABCB4 p.Gly535Asp 12671900:60:37
status: NEW
view ABCB4 p.Gly535Asp details
 Interestingly, the daughter with the G535D mutation developed in the follow-up intrahepatic cholestasis of pregnancy at the age of 22 years. Login to comment 88 ABCB4 p.Gly535Asp
X
ABCB4 p.Gly535Asp 12671900:88:20
status: NEW
view ABCB4 p.Gly535Asp details
 As indicated above, G535D is a missense mutation that does not prevent the canalicular expression of the protein, but it seems to be associated with a moderate reduction in the levels of the transporter. Login to comment