PMID: 19490418

Zimmer V, Mullenbach R, Simon E, Bartz C, Matern S, Lammert F
Combined functional variants of hepatobiliary transporters and FXR aggravate intrahepatic cholestasis of pregnancy.
Liver Int. 2009 Sep;29(8):1286-8., [PubMed]
Sentences
No. Mutations Sentence Comment
32 ABCB11 p.Val444Ala
X
ABCB11 p.Val444Ala 19490418:32:212
status: NEW
view ABCB11 p.Val444Ala details
ABCB4 p.Ser320Phe
X
ABCB4 p.Ser320Phe 19490418:32:161
status: NEW
view ABCB4 p.Ser320Phe details
 Genetic analysis Sequencing of all exons and exon-intron boundaries of the ABCB4 and ABCB11 genes was performed, revealing the rare ABCB4 mutation c.959C 4 T (p.S320F) and the common ABCB11 variant c.1331T 4C (p.V444A). Login to comment 39 ABCB11 p.Val444Ala
X
ABCB11 p.Val444Ala 19490418:39:169
status: NEW
view ABCB11 p.Val444Ala details
 Of interest, in the nulligravid sister (II:2), who was also affected by juvenile cholelithiasis and biochemical evidence of mild cholestatic liver disease, the ABCB11 p.V444A variant was detected in the heterozygous state only. Login to comment