Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II. [electronic resource]
Producer: 20180529Description: 185 p. digitalISSN:- 1476-511X
- 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
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Publication Type: Case Reports; Journal Article
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