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[Utilization of high-resolution melting analysis to screen patients with neonatal intrahepatic cholestasis caused by citrin deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2012

Wen Peng-qiang, Wang Guo-bing, Chen Zhan-ling, Cui Dong, Liu Xiao-hong, Ying Li-fang, Song Ping, Yuan Quan, Chen Shu-li, Liao Jian-xiang

Abstract excerpt

OBJECTIVE: To assess the feasibility of high-resolution melting (HRM) analysis for screening patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). METHODS: Based on previous studies on SLC25A13 gene in Chinese patients with NICCD, four hotspot mutations (851del4, 1638ins23, IVS6+5G>A and IVS16ins3kb) were selected. Results of the HRM analysis was validated using 50 negative controls...

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Identifiers

PMID: 22487826
DOI: 10.3760/cma.j.issn.1003-9406.2012.02.011

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