PMID: 23261441

Jang GH, Kim TH, Choe Y, Ham A, Choi JH
Functional characterization of genetic variations in the MDR3 promoter.
Biochem Biophys Res Commun. 2013 Jan 25;430(4):1312-8. doi: 10.1016/j.bbrc.2012.12.041. Epub 2012 Dec 19., [PubMed]
Sentences
No. Mutations Sentence Comment
19 ABCB4 p.Ile541Phe
X
ABCB4 p.Ile541Phe 23261441:19:41
status: NEW
view ABCB4 p.Ile541Phe details
 For example, a nonsynonymous mutation, p.I541F, found in a PFIC3 patient showed decreased transport activity owing to reduced membrane expression [8]. Login to comment