Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma mem...
Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction
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Publisher
England: Nature Publishing Group
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English
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England: Nature Publishing Group
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Contents
The ABCB4 gene encodes for MDR3, a protein that translocates phosphatidylcholine from the inner to the outer leaflet of the hepatocanalicular membrane; its deficiency favors the formation of 'toxic bile'. Several forms of hepatobiliary diseases have been associated with ABCB4 mutations, but the detrimental effects of most mutations on the encoded p...
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Full title
Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3992575
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3992575
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2013.214
