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Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.

Hepatology international - 1 Apr 2024

Zheng Yucan, Guo Hongmei, Chen Leilei, Cheng Weixia, Yan Kunlong, Zhang Zhihua, Li Mei, Jin Yu, Hu Guorui, Wang Chunli, Zhou Chunlei, Zhou Wei, Jia Zhanjun, Zheng Bixia, Liu Zhifeng

Abstract excerpt

BACKGROUND AND AIMS: Cholestatic liver disease is a leading referral to pediatric liver transplant centers. Inherited disorders are the second most frequent cause of cholestasis in the first month of life. METHODS: We retrospectively characterized the genotype and phenotype of 166 participants with intrahepatic cholestasis, and re-analyzed phenotype and whole-exome sequencing (WES) data from patients with...

Topics

Child
Humans
Animals
Mice
Retrospective Studies
High-Throughput Nucleotide Sequencing
Cholestasis, Intrahepatic
Cholestasis
Mutation
Kinesins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ubiquitin Thiolesterase

Ubiquitin-Specific Proteases

Cell Cycle Proteins

Adenosine Triphosphatases

Membrane Transport Proteins

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PMID: 37314652
DOI: 10.1007/s12072-023-10553-6

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