Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Nonsense Mutations in the ATP8B1 Gene

Benign recurrent intrahepatic cholestasis (BRIC) is a group of genetically heterogeneous autosomal recessive liver disorders characterized by recurrent episodes of jaundice and pruritus. BRIC is divided into two groups, BRIC type 1 (BRIC1) and BRIC type 2 (BRIC2), caused by mutations in the ATP8B1 a...

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Detalles Bibliográficos
Autores principales: Miura, Ryoichi, Kawaoka, Tomokazu, Imamura, Michio, Kosaka, Masanari, Johira, Yusuke, Shirane, Yuki, Murakami, Serami, Yano, Shigeki, Amioka, Kei, Naruto, Kensuke, Ando, Yuwa, Kosaka, Yumi, Kodama, Kenichiro, Uchikawa, Shinsuke, Fujino, Hatsue, Ono, Atsushi, Nakahara, Takashi, Murakami, Eisuke, Yamauchi, Masami, Hinoi, Takao, Aikata, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2022
Materias:
Single Case
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958625/
https://www.ncbi.nlm.nih.gov/pubmed/35431768
http://dx.doi.org/10.1159/000522145

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