Case Report: A Rare Case of Benign Recurrent Intrahepatic Cholestasis-Type 1 With a Novel Heterozygous Pathogenic Variant of ATP8B1

Benign recurrent intrahepatic cholestasis type 1 (BRIC1) is a rare autosomal recessive disorder that is characterized by intermittent episodes of jaundice and intense pruritus and caused by pathogenic variants of adenosine triphosphatase phospholipid transporting 8B1 (ATP8B1). The presence of geneti...

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Detalles Bibliográficos
Autores principales: Suzuki, Hiroyuki, Arinaga-Hino, Teruko, Sano, Tomoya, Mihara, Yutaro, Kusano, Hironori, Mizuochi, Tatsuki, Togawa, Takao, Ito, Shogo, Ide, Tatsuya, Kuwahara, Reiichiro, Amano, Keisuke, Kawaguchi, Toshihiro, Yano, Hirohisa, Kage, Masayoshi, Koga, Hironori, Torimura, Takuji
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/PMC9099094/
https://www.ncbi.nlm.nih.gov/pubmed/35572954
http://dx.doi.org/10.3389/fmed.2022.891659

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