The First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with Novel USP53 Splicing Variants by Next Generation Sequencing

Progressive familial intrahepatic cholestasis (PFIC) is a group of rare genetic disorders caused by defects in biliary epithelial transporters. It mostly presents as low γ-glutamyltransferase cholestasis. Recently, USP53 has been identified as one of the novel genes associated with PFIC. Herein, we...

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Detalles Bibliográficos
Autores principales: Ahn, Soomin, Choi, Jonggi, Jeong, Sook-Hyang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10681827/
https://www.ncbi.nlm.nih.gov/pubmed/37992747
http://dx.doi.org/10.3349/ymj.2023.0161

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10681827/
https://www.ncbi.nlm.nih.gov/pubmed/37992747
http://dx.doi.org/10.3349/ymj.2023.0161

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