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Updated: Aug 1, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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A Novel Mutation in the OXCT1 Gene Causing Succinyl-CoA:3-Ketoacid CoA Transferase (SCOT) Deficiency Starting with

Davoud Amirkashani1, Mostafa Asadollahi2,3, Rozita Hosseini4

  • 1Division of Endocrinology and Metabolism, Ali Asghar Children Hospital, Iran University of Medical Sciences, Tehran, Iran.

Iranian Journal of Child Neurology
|April 24, 2023
PubMed

Keywords:
IranNext-generation sequencing (NGS)OXCT1 geneSuccinyl-CoA:3-oxoacid CoA transferase deficiency

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