ABCMdb

PMID: 19797282

Jara P, Hierro L, Martinez-Fernandez P, Alvarez-Doforno R, Yanez F, Diaz MC, Camarena C, De la Vega A, Frauca E, Munoz-Bartolo G, Lopez-Santamaria M, Larrauri J, Alvarez L
Recurrence of bile salt export pump deficiency after liver transplantation.
N Engl J Med. 2009 Oct 1;361(14):1359-67., 2009-10-01 [PubMed]

Sentences

No. Mutations Sentence Comment

25 ABCB11 p.Arg303Gly ABCB11 p.Leu581Phe Characteristic Patient 1 Patient 2 Patient 3 Sex M F F Year of birth 1982 1991 1995 Age at transplantation (yr) 5.2 3.7 2.2 ABCB11 mutation Nucleotide mutation Homozygote, 907A→G Compound heterozygote, 1741C→T and IVS12+1G→T Homozygote, IVS17+1T→A Predicted amino acid mutation R303G L581F and splice-site disruption Splice-site disruption Figure 1 (facing page). Login to comment 27 ABCB11 p.Arg303Gly ABCB11 p.Leu581Phe Characteristic Patient 1 Patient 2 Patient 3 Sex M F F Year of birth 1982 1991 1995 Age at transplantation (yr) 5.2 3.7 2.2 ABCB11 mutation Nucleotide mutation Homozygote, 907A→G Compound heterozygote, 1741C→T and IVS12+1G→T Homozygote, IVS17+1T→A Predicted amino acid mutation R303G L581F and splice-site disruption Splice-site disruption Figure 1 (facing page). Login to comment