Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.
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ABSTRACT:
SUBMITTER: Xie S
PROVIDER: S-EPMC10264785 | biostudies-literature | 2023
REPOSITORIES: biostudies-literature
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Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.
Xie Shuying S Wei Shizhang S Ma Xiao X Wang Ruilin R He Tingting T Zhang Zhao Z Yang Ju J Wang Jiawei J Chang Lei L Jing Manyi M Li Haotian H Zhou Xuelin X Zhao Yanling Y
Frontiers in pharmacology 20230531
Hereditary cholestatic liver disease caused by a class of autosomal gene mutations results in jaundice, which involves the abnormality of the synthesis, secretion, and other disorders of bile acids metabolism. Due to the existence of a variety of gene mutations, the clinical manifestations of children are also diverse. There is no unified standard for diagnosis and single detection method, which seriously hinders the development of clinical treatment. Therefore, the mutated genes of hereditary i ...[more]
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