A Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with Neurologic Manifestations.

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作者： Davoud,Amirkashani ^[1] ; Mostafa,Asadollahi ^[2] ; Rozita,Hosseini ^[3] ; Saeed,Talebi ^[4] ; Zahra,Golchehre ^[5] ; Mohammad,Keramatipour ^[2]

作者单位： Division of Endocrinology and Metabolism, Ali Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran. ^[1] Watson Genetic Laboratory, Tehran, Iran. ^[2] Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran. ^[3] Department of Pediatric Nephrology, Ali Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran. ^[4] Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran. ^[5]

关键词 Iran Next-generation sequencing (NGS)OXCT1 gene Succinyl-CoA:3-oxoacid CoA transferase deficiency

DOI 10.22037/ijcn.v17i2.35963

PMID 37091464

发布时间 2023-06-02

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Iranian journal of child neurology

127-133页

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A Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with Neurologic Manifestations.

Iranian journal of child neurology

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Iranian journal of child neurology

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A Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with Neurologic Manifestations.

Iranian journal of child neurology

相似文献

Iranian journal of child neurology

相关期刊

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