PMID: 16550034

Rutherford AE, Pratt DS
Cholestasis and cholestatic syndromes.
Curr Opin Gastroenterol. 2006 May;22(3):209-14., [PubMed]
Sentences
No. Mutations Sentence Comment
38 ABCB11 p.Asp482Gly
X
ABCB11 p.Asp482Gly 16550034:38:44
status: NEW
view ABCB11 p.Asp482Gly details
ABCB11 p.Glu297Gly
X
ABCB11 p.Glu297Gly 16550034:38:34
status: NEW
view ABCB11 p.Glu297Gly details
 Of these, two missense mutations (E297G and D482G) are present in 30% of European PFIC2 families. Login to comment