Mixed Dubin-Gilbert Syndrome: A Compound Heterozygous Phenotype of Two Novel Variants in ABCC2 Gene

Chin Med J (Engl). 2017 Apr 20;130(8):1003-1005. doi: 10.4103/0366-6999.204108.

Authors

Jun Jiang¹, Hua-Gui Wang¹, Wei-Li Wu¹, Xiang-Xin Peng²

Affiliations

¹ The Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China.
² Department of Infectious Diseases, China-Japan Friendship Hospital, Beijing 100029, China.

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Female
Gilbert Disease / genetics*
Glucuronosyltransferase / genetics
Humans
Hyperbilirubinemia / genetics
Jaundice, Chronic Idiopathic / genetics*
Multidrug Resistance-Associated Protein 2
Multidrug Resistance-Associated Proteins / genetics
Mutation / genetics

Substances

ABCC2 protein, human
Multidrug Resistance-Associated Protein 2
Multidrug Resistance-Associated Proteins
UGT1A1 enzyme
Glucuronosyltransferase