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2014 | 2 |
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Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction.
Eur J Hum Genet. 2014 May;22(5):633-9. doi: 10.1038/ejhg.2013.214. Epub 2013 Sep 18.
Eur J Hum Genet. 2014.
PMID: 24045840
Free PMC article.
Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4.
Andress EJ, Nicolaou M, Romero MR, Naik S, Dixon PH, Williamson C, Linton KJ.
Andress EJ, et al.
Hepatology. 2014 May;59(5):1921-31. doi: 10.1002/hep.26970. Epub 2014 Apr 1.
Hepatology. 2014.
PMID: 24806754
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