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Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency
BACKGROUND: 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 in Fujian Province in China mainland. METHODS: Primary carnitine deficien...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8077093/ https://ncbi.nlm.nih.gov/pubmed/33560599 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1583 |
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