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

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

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...

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Main Authors: Yunguo Zhou (Author), Yucai Liu (Author), Yang Shen (Author), Fang Xu (Author), Fei Xu (Author), Hui Huang (Author), Junkai Duan (Author)
Format: Book
Published: Frontiers Media S.A., 2023-06-01T00:00:00Z.
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