Literature citations
Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4.
Andress E.J.; Nicolaou M.; Romero M.R.; Naik S.; Dixon P.H.; Williamson C.; Linton K.J.;
Hepatology 59:1921-1931(2014)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS PFIC3 VAL-286 AND PHE-320; MUTAGENESIS OF ALA-953;
MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.
Rosmorduc O.; Hermelin B.; Poupon R.;
Gastroenterology 120:1459-1467(2001)
Cited for: VARIANTS GBD1 PHE-320 AND SER-1168; VARIANT ALA-175;
ABCB4 gene mutation-associated cholelithiasis in adults.
Rosmorduc O.; Hermelin B.; Boelle P.Y.; Parc R.; Taboury J.; Poupon R.;
Gastroenterology 125:452-459(2003)
Cited for: VARIANTS GBD1 ILE-165; THR-301; PHE-320; ASP-528; GLN-591; GLN-788 AND SER-1168; VARIANTS ALA-175; GLN-590; GLY-652; SER-742 AND THR-934;
Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy.
Pauli-Magnus C.; Lang T.; Meier Y.; Zodan-Marin T.; Jung D.; Breymann C.; Zimmermann R.; Kenngott S.; Beuers U.; Reichel C.; Kerb R.; Penger A.; Meier P.J.; Kullak-Ublick G.A.;
Pharmacogenetics 14:91-102(2004)
Cited for: VARIANTS ALA-175; GLY-652 AND MET-775; VARIANTS ICP3 PHE-320; ASP-528 AND GLU-762;
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
Degiorgio D.; Colombo C.; Seia M.; Porcaro L.; Costantino L.; Zazzeron L.; Bordo D.; Coviello D.A.;
Eur. J. Hum. Genet. 15:1230-1238(2007)
Cited for: VARIANTS PFIC3 GLU-126; PRO-250; VAL-286; PHE-320; LEU-357; VAL-364; HIS-403; ALA-475; THR-511; LYS-558; ALA-593; VAL-630; PRO-701; ILE-715; GLU-723; THR-726; VAL-737; ASP-840; SER-954 AND THR-1193; VARIANTS ALA-175; GLN-590 AND MET-775;
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
Colombo C.; Vajro P.; Degiorgio D.; Coviello D.A.; Costantino L.; Tornillo L.; Motta V.; Consonni D.; Maggiore G.; Balli F.; Berardi S.; Calacoci M.; Castellano E.; Marazzi M.G.; Gaslini G.; D'Antiga L.; Ferretti E.; Giannini A.; Indolfi G.; Iorio R.; Martelossi S.; Moretti C.; Nebbia G.; Oliveri F.; Poggiani C.; Raggi M.; Riva S.; Sciveres M.; Torre G.; Zancan L.;
J. Pediatr. Gastroenterol. Nutr. 52:73-83(2011)
Cited for: VARIANTS PFIC3 ARG-70; VAL-73; PHE-320 AND HIS-403; VARIANT GLY-652;
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;
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