PMID: 9425227

Wada M, Toh S, Taniguchi K, Nakamura T, Uchiumi T, Kohno K, Yoshida I, Kimura A, Sakisaka S, Adachi Y, Kuwano M
Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome.
Hum Mol Genet. 1998 Feb;7(2):203-7., [PubMed]
Sentences
No. Mutations Sentence Comment
21 ABCC2 p.Arg768Trp
X
ABCC2 p.Arg768Trp 9425227:21:52
status: NEW
view ABCC2 p.Arg768Trp details
We identified a missense mutation 2302 (C→T) R768W in the active transport family signature (15) present in cDNA of three patients, DJ1, DJ4 and DJ5 (Figs 1 and 2). Login to comment