|
Low phospholipid-associated cholelithiasis
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).
|
28012258 |
2017 |
|
Cholestasis, progressive familial intrahepatic 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).
|
28012258 |
2017 |
|
Cholestasis, progressive familial intrahepatic 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.
|
24594635 |
2015 |
|
Cholestasis, progressive familial intrahepatic 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction.
|
24045840 |
2014 |
|
Low phospholipid-associated cholelithiasis
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations.
|
24723470 |
2014 |
|
Cholestasis, progressive familial intrahepatic 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4.
|
24806754 |
2014 |
|
Low phospholipid-associated cholelithiasis
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.
|
23533021 |
2013 |
|
Low phospholipid-associated cholelithiasis
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations.
|
22331132 |
2012 |
|
Cholestasis, progressive familial intrahepatic 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
|
21119540 |
2011 |
|
Cholestasis, progressive familial intrahepatic 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
|
17726488 |
2007 |
|
Cholestasis, progressive familial intrahepatic 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis.
|
12671900 |
2003 |
|
Low phospholipid-associated cholelithiasis
|
|
0.700 |
GeneticVariation
|
UNIPROT |
ABCB4 gene mutation-associated cholelithiasis in adults.
|
12891548 |
2003 |
|
Low phospholipid-associated cholelithiasis
|
|
0.700 |
GeneticVariation
|
UNIPROT |
MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.
|
11313316 |
2001 |
|
Cholestasis, progressive familial intrahepatic 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.
|
11313315 |
2001 |
|
Cholestasis, progressive familial intrahepatic 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.
|
9419367 |
1998 |