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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Bibliographic Details
Main Authors: Yunguo Zhou, Yucai Liu, Yang Shen, Fang Xu, Fei Xu, Hui Huang, Junkai Duan
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Pediatrics
Subjects:
primary carnitine deficiency
SLC22A5 gene
cardiomyopathy
gene
pediatrics
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.985720/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.985720/full

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