Novel ABCB4 mutation in a Chinese female patient with progressive familial intrahepatic cholestasis type 3: a case report

• Egile Nagusiak: Zhenping Wu (Egilea), Siying Zhang (Egilea), Lunli Zhang (Egilea), Ming Li (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2020-04-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Abstract Background Progressive familial intrahepatic cholestasis (PFIC) is a rare group of autosomal recessive hereditary hepatic diseases. There are three types of PFIC, classified according to the mutated gene. For example, PFIC type 3 (PFIC3) is due to mutations in the ABCB4 gene (encoding multi...