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

INTRODUCTION: To investigate the clinical characteristics and disease outcomes of a pedigree with compound heterozygous mutations in the SLC22A5 gene. METHODS: Serum acylcarnitine profiles of patients were analyzed using tandem mass spectrometry. DNA samples isolated from patients and their first-de...

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Detalles Bibliográficos
Autores principales:	Zhou, Yunguo, Liu, Yucai, Shen, Yang, Xu, Fang, Xu, Fei, Huang, Hui, Duan, Junkai
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10283357/ https://www.ncbi.nlm.nih.gov/pubmed/37351314 http://dx.doi.org/10.3389/fped.2023.985720

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