PMID: 16628629

Demeilliers C, Jacquemin E, Barbu V, Mergey M, Paye F, Fouassier L, Chignard N, Housset C, Lomri NE
Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation.
Hepatology. 2006 May;43(5):1125-34., [PubMed]
Sentences
No. Mutations Sentence Comment
46 ABCB11 p.Arg1090*
X
ABCB11 p.Arg1090* 16628629:46:117
status: NEW
view ABCB11 p.Arg1090* details
 The patient with PFIC2 (patient 3) whose case has been previously reported18 was homozygous for a nonsense mutation (R1090X) in the ABCB11 gene. Login to comment