Article

Two novel intronic mutations in ABCB4 gene: clinical manifestations and molecular mechanisms and literatures review

2024-05-16

Abstract excerpt

<title>Abstract</title> <p><bold>Background and Aims</bold>: ABCB4 gene is closely related to bile transport and excretion. There are few studies on intronic mutations. In this study, we aimed to explore the pathogenicity of 2 newly discovered intronic mutations of the ABCB4 gene. <bold>Methods</bold>: This research enrolled 2 patients with novel ABCB4 intronic mutations and we analyzed their clinical characteris...

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Literature Corpus work: 863bd5dd-5e00-58c7-825b-e950c3dfd60e
DOI: 10.21203/rs.3.rs-4383122/v1

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