Clinical phenotype and genotype analysis of progressive familial intrahepatic cholestasis type 3 caused by novel ABCB4 gene mutation

Objective: To investigate the pathogenic mechanism and clinical characteristics of the novel splicing variant of ATP-binding cassette subfamily B member 4 (ABCB4) and provide a basis for subsequent genetic diagnosis. Methods: The clinical data of a 5-year-old child with cholestatic liver disease adm...

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Veröffentlicht in:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 62(2024), 7 vom: 02. Juli, Seite 649-654
1. Verfasser:	Ye, X L (VerfasserIn)
Weitere Verfasser:	Yu, F H, Zhou, J, Zhao, C N, Wu, J
Format:	Online-Aufsatz
Sprache:	Chinese
Veröffentlicht:	2024
Zugriff auf das übergeordnete Werk:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:	Journal Article Case Reports English Abstract multidrug resistance protein 3 9EI49ZU76O ATP Binding Cassette Transporter, Subfamily B Ursodeoxycholic Acid 724L30Y2QR