PMID: 9878557

Kajihara S, Hisatomi A, Mizuta T, Hara T, Ozaki I, Wada I, Yamamoto K
A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome.
Biochem Biophys Res Commun. 1998 Dec 18;253(2):454-7., [PubMed]
Sentences
No. Mutations Sentence Comment
61 ABCC2 p.Arg768Trp
X
ABCC2 p.Arg768Trp 9878557:61:108
status: NEW
view ABCC2 p.Arg768Trp details
 Wada et al. identified three kinds of mutations in Japanese DJS patients; a missense mutation 2302 (C to T) R768W in the active transport signature, 2272del168, a deletion of 168 nucleotides from 2272 to 2439, 1669del147, a splice mutation that leads to 147b deletion (from nucleotides 1669 to 1815) (8). Login to comment