A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China

BACKGROUND: Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disorder characterized by predominantly conjugated hyperbilirubinemia that is caused by pathogenic mutations in the adenosine triphosphate-binding cassette subfamily C member 2 (ABCC2) gene, which encodes multidrug resistance-ass...

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Detalles Bibliográficos
Autores principales: Wu, Lina, Li, Yanmeng, Song, Yi, Zhou, Donghu, Jia, Siyu, Xu, Anjian, Zhang, Wei, You, Hong, Jia, Jidong, Huang, Jian, Ou, Xiaojuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7079413/
https://www.ncbi.nlm.nih.gov/pubmed/32183854
http://dx.doi.org/10.1186/s13023-020-1346-4

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