Case Report: A Rare Heterozygous ATP8B1 Mutation in a BRIC1 Patient: Haploinsufficiency?

Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive disorder characterized by recurrent cholestasis. ATPase class I, type 8B, member 1 (ATP8B1) encodes familial intrahepatic cholestasis 1 (FIC1), which acts as a phosphatidylserine reversing enzyme in the tubule membrane of hep...

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Detalles Bibliográficos
Autores principales: Bing, Hao, Li, Yi-Ling, Li, Dan, Zhang, Chen, Chang, Bing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9243653/
https://www.ncbi.nlm.nih.gov/pubmed/35783636
http://dx.doi.org/10.3389/fmed.2022.897108

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9243653/
https://www.ncbi.nlm.nih.gov/pubmed/35783636
http://dx.doi.org/10.3389/fmed.2022.897108

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