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

Ahn, Soomin; Choi, Jonggi; Jeong, Sook-Hyang

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

Ahn, Soomin; Choi, Jonggi; Jeong, Sook-Hyang.

Afiliación

Ahn S; Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Choi J; Department of Gastroenterology, Liver Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Jeong SH; Division of Gastroenterology, Department of Internal Medicine, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea. jsh@snubh.org.

Yonsei Med J ; 64(12): 745-749, 2023 Dec.

Article en En | MEDLINE | ID: mdl-37992747

Asunto(s)

Colestasis; Secuenciación de Nucleótidos de Alto Rendimiento; Masculino; Adulto; Humanos; Adulto Joven; gamma-Glutamiltransferasa/genética; Bilirrubina; República de Corea; Mutación; Proteasas Ubiquitina-Específicas

Palabras clave

Cholestasis; USP53; Î³-glutamyltransferase

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Colestasis / Secuenciación de Nucleótidos de Alto Rendimiento País/Región como asunto: Asia Idioma: En Revista: Yonsei Med J Año: 2023 Tipo del documento: Article

Texto completo

Añadir a Mi BVS

Imprimir

XML

PubMed Links

Buscar en Google