PMID: 18937870

Emerick KM, Elias MS, Melin-Aldana H, Strautnieks S, Thompson RJ, Bull LN, Knisely A, Whitington PF, Green RM
Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary Diversion.
BMC Gastroenterol. 2008 Oct 20;8:47., [PubMed]
Sentences
No. Mutations Sentence Comment
58 ABCB11 p.Glu297Gly
X
ABCB11 p.Glu297Gly 18937870:58:79
status: NEW
view ABCB11 p.Glu297Gly details
ABCB11 p.Glu297Gly
X
ABCB11 p.Glu297Gly 18937870:58:137
status: NEW
view ABCB11 p.Glu297Gly details
ABCB11 p.Arg487Pro
X
ABCB11 p.Arg487Pro 18937870:58:183
status: NEW
view ABCB11 p.Arg487Pro details
 The sequenced mutations included: patient 8 (611+1 G>A/890 A>G (heterozygote), E297G); patient 9 (IVS13del-13^-8/890 A>G (heterozygote), E297G) and patient 10 (1460 G>C (homozygote), R487P). Login to comment