PMID: 15317749

Alvarez L, Jara P, Sanchez-Sabate E, Hierro L, Larrauri J, Diaz MC, Camarena C, De la Vega A, Frauca E, Lopez-Collazo E, Lapunzina P
Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1.
Hum Mol Genet. 2004 Oct 15;13(20):2451-60. Epub 2004 Aug 18., 2004-10-15 [PubMed]
Sentences
No. Mutations Sentence Comment
42 ABCB11 p.Arg1231Gln
X
ABCB11 p.Arg1231Gln 15317749:42:3
status: NEW
view ABCB11 p.Arg1231Gln details
 A, R1231Q) in ABCB11 and lacked immunohistochemically demonstrable BSEP at canaliculi; MRP2 marked normally (Fig. 2). Login to comment 44 ABCB11 p.Arg1231Gln
X
ABCB11 p.Arg1231Gln 15317749:44:3
status: NEW
view ABCB11 p.Arg1231Gln details
 A, R1231Q) in ABCB11 and lacked immunohistochemically demonstrable BSEP at canaliculi; MRP2 marked normally (Fig. 2). Login to comment