Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II. [electronic resource]
- Lipids in health and disease Sep 2017
- 185 p. digital
Publication Type: Case Reports; Journal Article
1476-511X
10.1186/s12944-017-0576-5 doi
Age of Onset Asian People Base Sequence Electron-Transferring Flavoproteins--chemistry Exons Female Gene Expression Genes, Recessive Genetic Association Studies Genotype Heterozygote Humans Iron-Sulfur Proteins--chemistry Models, Molecular Multiple Acyl Coenzyme A Dehydrogenase Deficiency--diagnosis Mutation Oxidoreductases Acting on CH-NH Group Donors--chemistry Pedigree Phenotype Young Adult