Literature citations
Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations.
Wendum D.; Barbu V.; Rosmorduc O.; Arrive L.; Flejou J.F.; Poupon R.;
Virchows Arch. 460:291-298(2012)
Cited for: VARIANTS GBD1 MET-34; GLY-47; VAL-286 AND ASP-528; VARIANTS GLN-47; ALA-175; PHE-320; GLN-406; MET-775 AND THR-964;
Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.
Poupon R.; Rosmorduc O.; Boelle P.Y.; Chretien Y.; Corpechot C.; Chazouilleres O.; Housset C.; Barbu V.;
Hepatology 58:1105-1110(2013)
Cited for: VARIANTS GBD1 GLY-47; HIS-71; VAL-73; CYS-78; PHE-99; SER-124; SER-154; ILE-165; VAL-286; THR-301; PHE-320; GLY-406; SER-510; THR-511; LYS-513; ASP-528; PHE-541; HIS-545; HIS-549; THR-589; GLN-591; MET-593; LYS-647; LEU-726; LEU-729; GLN-788; VAL-975 AND TRP-1084; VARIANTS ALA-175; GLN-590 AND THR-934;
Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations.
Gautherot J.; Delautier D.; Maubert M.A.; Ait-Slimane T.; Bolbach G.; Delaunay J.L.; Durand-Schneider A.M.; Firrincieli D.; Barbu V.; Chignard N.; Housset C.; Maurice M.; Falguieres T.;
Hepatology 60:610-621(2014)
Cited for: VARIANTS GBD1 MET-34 AND GLY-47; CHARACTERIZATION OF VARIANTS GBD1 MET-34 AND GLY-47; FUNCTION; SUBCELLULAR LOCATION; PHOSPHORYLATION AT THR-34; GLYCOSYLATION; MUTAGENESIS OF THR-34; THR-44 AND SER-49; IDENTIFICATION BY MASS SPECTROMETRY;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.