Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency
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DOI: 10.1002/mgg3.1583
Abstract: Rare studies focused on the tandem mass spectrometry (MS/MS) findings for the primary carnitine deficiency (PCD) in the neonates in China mainland. In this study, we aim to analyze the gene mutation spectrum of PCD… read more here.
Keywords: spectrum clinical; primary carnitine; carnitine deficiency; gene spectrum ... See more keywords
Gene spectrum analysis of thalassemia for people residing in northern China
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DOI: 10.1186/s12881-019-0818-7
Abstract: BackgroundSouthern China provinces have high incidence of thalassemia, however, sporadic cases can be found in northern China as well.MethodsPeople resided in north China who were suspected to have thalassemia were detected mutations by gap-polymerase chain… read more here.
Keywords: gene spectrum; analysis; thalassemia; northern china ... See more keywords