ABCMdb

PMID: 16012956

Cebecauerova D, Jirasek T, Budisova L, Mandys V, Volf V, Novotna Z, Subhanova I, Hrebicek M, Elleder M, Jirsa M
Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome.
Gastroenterology. 2005 Jul;129(1):315-20., [PubMed]

Sentences

No. Mutations Sentence Comment

55 ABCC2 p.Gly676Arg 2026GϾC 16 G676R Wakusawa S et al, J Hum Genet 2003;48:425-429. Login to comment 56 ABCC2 p.Trp709Arg 2125TϾC 17 W709R Machida I et al, Hepatol Res 2004;30:86-90. Login to comment 57 ABCC2 p.Arg768Trp 2302CϾT 18 R768W Wada M et al, Hum Mol Genet 1998;7:203-207. Login to comment 60 ABCC2 p.Arg1150His 3449GϾA 25 R1150H Mor-Cohen R et al, J Biol Chem 2001;276:36923-36930. Login to comment 61 ABCC2 p.Ile1173Phe 3517AϾT 25 I1173F Mor-Cohen R et al, J Biol Chem 2001;276:36923-36930. Login to comment 63 ABCC2 p.Gln1382Arg 4145AϾG 29 Q1382R Toh S et al, Am J Hum Genet 1999;64:739-746. Login to comment