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[Genetic and prenatal diagnosis for a Chinese family with primary carnitine deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2015

Su Yanhua, Liu Yang, Xie Jiansheng, Xu Zhiyong, Wu Weiqing, Geng Qian, Luo Fuwei

Abstract excerpt

OBJECTIVE: To identify potential mutation of SLC22A5 gene in a 5-month-old boy affected with primary carnitine deficiency and provide genetic counseling and prenatal diagnosis for the members of his family. METHODS: DNA was extracted from peripheral blood samples derived from the proband, his parents and elder sister, as well as amniotic fluid from his pregnant mother. All of the 10 exons of the SLC22A5 gene were...

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PMID: 26252091
DOI: 10.3760/cma.j.issn.1003-9406.2015.04.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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