Condition: Jaundice, Chronic Idiopathic
rs56199535 in
ABCC2 gene and
Jaundice, Chronic Idiopathic
PMID 11477083 2001 Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome.
PMID 9425227 1998 Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome.
PMID 25336012 2014 We found a novel compound heterozygous mutation of DJS-related gene: W709R (T2145C): a missense mutation in exon 17, and R768W (C2302T), a missense mutation in exon 18.
PMID 11093739 2000 Impaired protein maturation of the conjugate export pump multidrug resistance protein 2 as a consequence of a deletion mutation in Dubin-Johnson syndrome.
PMID 22290738 2012 Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression system in fibrosarcoma cells.
PMID 10053008 1999 Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome.
PMID 10464142 1999 Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome.
PMID 11266082 2001 Polymorphism of the ABC transporter genes, MDR1, MRP1 and MRP2/cMOAT, in healthy Japanese subjects.
PMID 9185779 1997 A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome.
PMID 21044052 2010 Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome.
PMID 25336012 2014 Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene.
PMID 11477083 2001 One mutation, 3517A-->T, predicting a I1173F substitution, was found in 22 homozygous Iranian Jewish DJS patients from 13 unrelated families and a second mutation, 3449G-->A, predicting a R1150H substitution, was found in 5 homozygous Moroccan Jewish DJS patients from 4 unrelated families.
PMID 11477083 2001 One mutation, 3517A-->T, predicting a I1173F substitution, was found in 22 homozygous Iranian Jewish DJS patients from 13 unrelated families and a second mutation, 3449G-->A, predicting a R1150H substitution, was found in 5 homozygous Moroccan Jewish DJS patients from 4 unrelated families.