A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature #
2008 · Hepatology · 65 citations
https://doi.org/10.1002/hep.22775
D
Danièle Delautier
Inserm(FR)
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17
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511
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14
h-index
14
i10-index
Danièle Delautier is an academic researcher from Inserm. The author has contributed to research in topics: Drug Transport and Resistance Mechanisms & Liver Disease and Transplantation & Organ Transplantation Techniques and Outcomes. The author has an h-index of 14, co-authored 15 publications.
Papers by this author
worksEffects of Cellular, Chemical, and Pharmacological Chaperones on the Rescue of a Trafficking-defective Mutant of the ATP-binding Cassette Transporter Proteins ABCB1/ABCB4
2011 · Journal of Biological Chemistry · 54 citations
https://doi.org/10.1074/jbc.m111.275438
Phosphorylation of ABCB4 impacts its function: Insights from disease-causing mutations
2014 · Hepatology · 49 citations
https://doi.org/10.1002/hep.27170
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