PMID: 15768832

Carlton VE, Pawlikowska L, Bull LN
Molecular basis of intrahepatic cholestasis.
Ann Med. 2004;36(8):606-17., [PubMed]
Sentences
No. Mutations Sentence Comment
144 ABCB11 p.Asp482Gly
X
ABCB11 p.Asp482Gly 15768832:144:117
status: NEW
view ABCB11 p.Asp482Gly details
 Several ABCB11 mutations have been functionally characterized in vitro, revealing that at least one ABCB11 mutation, D482G (common in patients of Polish ethnicity) may represent only a partial loss of function (39). Login to comment