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

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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Bibliographic Details
Main Authors: Ryoichi Miura, Tomokazu Kawaoka, Michio Imamura, Masanari Kosaka, Yusuke Johira, Yuki Shirane, Serami Murakami, Shigeki Yano, Kei Amioka, Kensuke Naruto, Yuwa Ando, Yumi Kosaka, Kenichiro Kodama, Shinsuke Uchikawa, Hatsue Fujino, Atsushi Ono, Takashi Nakahara, Eisuke Murakami, Masami Yamauchi, Takao Hinoi, Hiroshi Aikata
Format: Article
Language:English
Published: Karger Publishers 2022-03-01
Series:Case Reports in Gastroenterology
Subjects:
atp8b1
autosomal recessive liver disease
benign recurrent intrahepatic cholestasis
Online Access:https://www.karger.com/Article/FullText/522145

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