Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A. [electronic resource]
Producer: 20110919Description: 569-76 p. digitalISSN:- 1432-1440
- China
- Electron-Transferring Flavoproteins -- genetics
- Female
- Gene Expression
- Genotype
- Heterozygote
- Humans
- Iron-Sulfur Proteins -- genetics
- Male
- Multiple Acyl Coenzyme A Dehydrogenase Deficiency -- drug therapy
- Muscle, Skeletal -- metabolism
- Muscular Diseases -- drug therapy
- Mutation
- Oxidoreductases Acting on CH-NH Group Donors -- genetics
- Phenotype
- Riboflavin -- therapeutic use
- Sequence Analysis, DNA
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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