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Article

High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan.

Clinica chimica acta; international journal of clinical chemistry - 20 Feb 2011

Lin Jing-Ting, Hsiao Kwang-Jen, Chen Chiung-Yu, Wu Cheng-Chung, Lin Shio-Jean, Chou Yen-Yin, Shiesh Shu-Chu

Abstract excerpt

BACKGROUND: Citrin, encoded by SLC25A13 gene, is a mitochondrial solute transporter with a crucial role in urea, nucleotide and protein synthesis. SLC25A13 mutations cause two phenotypes, adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). This study aimed to develop a high resolution melting (HRM) analysis for SLC25A13 mutation scanning and determine the...

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PMID: 21134364
DOI: 10.1016/j.cca.2010.11.027

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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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