ABCMdb

PMID: 22947535

Krawczyk M, Grunhage F, Langhirt M, Bohle RM, Lammert F
Prolonged cholestasis triggered by hepatitis A virus infection and variants of the hepatocanalicular phospholipid and bile salt transporters.
Ann Hepatol. 2012 Sep;11(5):710-4., [PubMed]

Sentences

No. Mutations Sentence Comment

57 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly ABCB4 p.Arg590Gln To detect genetic factors contributing to severe phenotype, we genotyped procholestatic mutations and polymorphisms in the ABCB4 (p.R590Q, c.711A>T), ABCB11 (p.E297G, p.A444V, p.D482G, c.3084A>G), ATP8B1 (p.N45T, p.E429A, p.I661T) and FXR (c.-1 G>T) genes. The genotyping was performed using PCR-based assays with 5`-nuclease and fluorescence detection (TaqMan). Login to comment 58 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly ABCB11 p.Glu297Gly ABCB4 p.Arg590Gln To detect genetic factors contributing to severe phenotype, we genotyped procholestatic mutations and polymorphisms in the ABCB4 (p.R590Q, c.711A>T), ABCB11 (p.E297G, p.A444V, p.D482G, c.3084A>G), ATP8B1 (p.N45T, p.E429A, p.I661T) and FXR (c.-1 G>T) genes. The genotyping was performed using PCR-based assays with 5`-nuclease and fluorescence detection (TaqMan). Login to comment 59 ABCB11 p.Glu297Gly The variants ABCB11 p.E297G and APT8B1 p.N45T were sequenced. Login to comment