[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（2015）
Abstract
The newly identified homozygous nonsense c.760C>T (p.R254X) mutation of the SLC22A5 gene probably underlies the primary carnitine deficiency of the proband. Genetic counseling and prenatal diagnosis have been provided for this family.
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Key words
primary carnitine deficiency,prenatal diagnosis,chinese family
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