Novel ABCB4 mutation in a Chinese female patient with progressive familial intrahepatic cholestasis type 3: a case report
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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2020-04-01
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| Series: | Diagnostic Pathology |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13000-020-00955-7 |