Relationship between phenotype and genotype of ABCB11 deficiency in siblings and literature review

Objective: To explore the relationship between genotype and phenotype of ABCB11 deficiency. Methods: Clinical data of two siblings with ABCB11 deficiency were retrospectively analyzed. Related literature from PubMed, CNKI and Wangfang databases was reviewed to date (up to August 2017) with 'ABC...

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Bibliographische Detailangaben

Veröffentlicht in:	Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 6 vom: 02. Juni, Seite 440-444
1. Verfasser:	Peng, X R (VerfasserIn)
Weitere Verfasser:	Lu, Y, Zhang, M H, Li, L T, Xie, X B, Gong, J Y, Wang, J S
Format:	Online-Aufsatz
Sprache:	Chinese
Veröffentlicht:	2018
Zugriff auf das übergeordnete Werk:	Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:	Case Reports Journal Article Review ABCB11 gene Bile salt export pump Child Cholestasis, intrahepatic ABCB11 protein, human ATP Binding Cassette Transporter, Subfamily B, Member 11 ATP-Binding Cassette Transporters