Concurrence of novel mutations causing Gilbert’s and Dubin–Johnson syndrome with poor clinical outcomes in a Han Chinese family

Dual-hereditary jaundice (Dubin–Johnson syndrome (DJS) and Gilbert’s syndrome (GS)) is a rare clinical entity resulting from defects of the ATP binding cassette subfamily C member 2 (ABCC2) and UDP glucuronosyltransferase family 1 member A1 (UGT1A1) genes with autosomal recessive inheritance. In thi...

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Detalles Bibliográficos
Autores principales: Zhou, Tai-Cheng, Li, Xiao, Li, Hui, Liu, Feng-Wei, Zhang, Si-Hang, Fan, Jing-Hua, Yang, Wen-Xiu, Yang, Ya-Li, Zhang, Liang, Wei, Jia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Nature Singapore 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9812767/
https://www.ncbi.nlm.nih.gov/pubmed/36274106
http://dx.doi.org/10.1038/s10038-022-01086-1

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