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[Mutational analysis of SLC22A5 gene in eight patients with systemic primary carnitine deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2017

Lin Yiming, Lin Weihua, Yu Ke, Zheng Faming, Zheng Zhenzhu, Fu Qingliu

Abstract excerpt

OBJECTIVE: To investigate the mutations of SLC22A5 gene in patients with systemic primary carnitine deficiency (CDSP). METHODS: High liquid chromatography tandem mass spectrometry (HPLC/MS/MS) was applied to screen congenital genetic metabolic disease and eight patients with CDSP were diagnosed among 77 511 samples. The SLC22A5 gene mutation was detected using massarray technology and sanger sequencing. Using...

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PMID: 28186590
DOI: 10.3760/cma.j.issn.1003-9406.2017.01.008

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