A report of a pedigree with compound heterozygous mutations in the SLC22A5 gene

• Principais autores: Yunguo Zhou (Autor), Yucai Liu (Autor), Yang Shen (Autor), Fang Xu (Autor), Fei Xu (Autor), Hui Huang (Autor), Junkai Duan (Autor)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2023-06-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

IntroductionTo investigate the clinical characteristics and disease outcomes of a pedigree with compound heterozygous mutations in the SLC22A5 gene.MethodsSerum acylcarnitine profiles of patients were analyzed using tandem mass spectrometry. DNA samples isolated from patients and their first-degree...