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Article

[Analysis of clinical features and SLC25A13 gene mutations in a family affected with neonatal intrahepatic cholestasis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2016

Wang Ling, Cheng Xinran, Yan Li, Wei Yan, Tang Fang, Dong Xin, Yuan Yanjiao, Xie Yanmei

Abstract excerpt

OBJECTIVE: To analyze the clinical features and potential mutations of the SLC25A13 gene in a boy affected with neonatal intrahepatic cholestasis. METHODS: Clinical data and peripheral venous blood sample of the child, and peripheral venous blood samples of both parents, were collected. All coding exons of the SLC25A13 gene were amplified with PCR and subjected to direct DNA sequencing. RESULTS: The boy was found...

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Share to Cholestasis, Intrahepatic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mitochondrial Membrane Transport Proteins

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PMID: 27577219
DOI: 10.3760/cma.j.issn.1003-9406.2016.05.020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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