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Article

Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.

Scientific reports - 9 Nov 2024

Wang Senyan, Liu Qi, Sun Xiaoyan, Wei Wenjuan, Ding Leilei, Zhao Xiaofang

Abstract excerpt

Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a severe hepatic disorder characterized by cholestasis. Elucidating the genotype-phenotype correlations and expanding the mutational spectrum of the ABCB4 gene are crucial for enhancing diagnostic accuracy and therapeutic strategies.Clinical and genetic data from 2 original PFIC3 patients from our institution, along with 118 additional cases...

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ATP Binding Cassette Transporter, Subfamily B
Child
Child, Preschool
Cholestasis, Intrahepatic
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

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PMID: 39521930
DOI: 10.1038/s41598-024-79123-6
PMCID: PMC11550383

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