PMID: 20583290

Siebold L, Dick AA, Thompson R, Maggiore G, Jacquemin E, Jaffe R, Strautnieks S, Grammatikopoulos T, Horslen S, Whitington PF, Shneider BL
Recurrent low gamma-glutamyl transpeptidase cholestasis following liver transplantation for bile salt export pump (BSEP) disease (posttransplant recurrent BSEP disease).
Liver Transpl. 2010 Jul;16(7):856-63., [PubMed]
Sentences
No. Mutations Sentence Comment
63 ABCB11 p.Val481Glu
X
ABCB11 p.Val481Glu 20583290:63:279
status: NEW
view ABCB11 p.Val481Glu details
 Patient 6 has compound heterozygous homozygous mutations; the Lys930GlufsX79 mutation leads to early truncation and absent BSEP protein,17 and absent BSEP protein determined by immunohistochemistry has been previously shown for this heterozygous combination, indicating that the Val481Glu missense mutation leads to an unstable protein.2 Time to onset of biochemical low GGT cholestasis and histologic evidence of cholestasis without rejection ranged from 9 months to 17 years after liver transplantation. Login to comment