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Article

[Clinical phenotype and genotype analysis of progressive familial intrahepatic cholestasis type 3 caused by novel ABCB4 gene mutation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jul 2024

Ye X L, Yu F H, Zhou J, Zhao C N, Wu J

Abstract excerpt

Objective: To investigate the pathogenic mechanism and clinical characteristics of the novel splicing variant of ATP-binding cassette subfamily B member 4 (ABCB4) and provide a basis for subsequent genetic diagnosis. Methods: The clinical data of a 5-year-old child with cholestatic liver disease admitted to the Beijing Children's Hospital of Capital Medical University was retrospectively analyzed. The pathogenic...

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Share to ATP Binding Cassette Transporter, Subfamily B
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholestasis, Intrahepatic

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Identifiers

PMID: 38955683
DOI: 10.3760/cma.j.cn112140-20240319-00190

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