PMID: 12713886

Ganne-Carrie N, Baussan C, Grando V, Gaudelus J, Cresteil D, Jacquemin E
Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills.
J Hepatol. 2003 May;38(5):693-4., [PubMed]
Sentences
No. Mutations Sentence Comment
12 ABCB4 p.Ala934Thr
X
ABCB4 p.Ala934Thr 12713886:12:100
status: NEW
view ABCB4 p.Ala934Thr details
C) predicting abnormal splicing of coding sequence and a heterozygous missense mutation in exon 23 (A934T) [1,4]. Login to comment
13 ABCB4 p.Ala934Thr
X
ABCB4 p.Ala934Thr 12713886:13:100
status: NEW
view ABCB4 p.Ala934Thr details
C) predicting abnormal splicing of coding sequence and a heterozygous missense mutation in exon 23 (A934T) [1,4]. Login to comment