Infantile cholestasis caused by CFTR mutation : case report and literature review

Objective: To study the clinical presentation, biochemical features and genetic analysis of an infant with cholestasis related to the CFTR mutations. Method: The clinical presentation, laboratory investigations and management of a case with infantile cholestasis caused by CFTR mutations were summari...

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Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 54(2016), 11 vom: 02. Nov., Seite 851-855
1. Verfasser: Li, L (VerfasserIn)
Weitere Verfasser: Wang, N L, Gong, J Y, Wang, J S
Format: Online-Aufsatz
Sprache:Chinese
Veröffentlicht: 2016
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:Case Reports Journal Article Review Cystic Fibrosis Transmembrane Conductance Regulator 126880-72-6