Guorui Hu Jingxia Zeng Chunli Wang Wei Zhou Zhanjun Jia Jun Yang Bixia Zheng
10.3389/fped.2020.00118
Front Pediatr
2020 Mar 27;8:118.
etfdh exon skipping multiple acyl-coa dehydrogenase deficiency synonymous variant whole exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/32292771/
Case Reports
PMC7119189
32292771
A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report
2020