Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset

Genetic variants in the adenosine triphosphate‐binding cassette subfamily B member 4 (ABCB4) gene, which encodes hepatocanalicular phosphatidylcholine floppase, can lead to different phenotypes, such as progressive familial intrahepatic cholestasis (PFIC) type 3, low phospholipid‐associated cholelit...

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Detalhes bibliográficos
Publicado no:Hepatol Commun
Principais autores: Schatz, Stephanie Barbara, Jüngst, Christoph, Keitel‐Anselmo, Verena, Kubitz, Ralf, Becker, Christina, Gerner, Patrick, Pfister, Eva‐Doreen, Goldschmidt, Imeke, Junge, Norman, Wenning, Daniel, Gehring, Stephan, Arens, Stefan, Bretschneider, Dirk, Grothues, Dirk, Engelmann, Guido, Lammert, Frank, Baumann, Ulrich
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5944585/
https://ncbi.nlm.nih.gov/pubmed/29761167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/hep4.1149
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