PMID: 23141890

Jacquemin E
Progressive familial intrahepatic cholestasis.
Clin Res Hepatol Gastroenterol. 2012 Sep;36 Suppl 1:S26-35. doi: 10.1016/S2210-7401(12)70018-9., [PubMed]
Sentences
No. Mutations Sentence Comment
151 ABCB11 p.Asp482Gly
X
ABCB11 p.Asp482Gly 23141890:151:52
status: NEW
view ABCB11 p.Asp482Gly details
ABCB11 p.Glu297Gly
X
ABCB11 p.Glu297Gly 23141890:151:63
status: NEW
view ABCB11 p.Glu297Gly details
 Preliminary data suggest that PFIC2 patients with p.D482G or p.E297G mutations may respond well to biliary diversion. Login to comment