10例原发性肉碱缺乏症新生儿的基因诊断
Genetic diagnosis of 10 neonates with primary carnitine deficiency

DOI: 10.7499/j.issn.1008-8830.2017.11.005

Keywords: 原发性肉碱缺乏症,串联质谱,SLC22A5基因,基因突变,新生儿,
Primary carnitine deficiency,Tandem mass spectrometry,SLC22A5 gene,Gene mutation,Neonate

Full-Text   Cite this paper   Add to My Lib

Abstract:

Full-Text