A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation. [electronic resource]
Producer: 20070914Description: 804-6 p. digitalISSN:- 1526-632X
- Adult
- Age of Onset
- Amino Acid Substitution -- genetics
- Asian People -- genetics
- Carnitine -- blood
- Carnitine O-Palmitoyltransferase -- deficiency
- DNA Mutational Analysis
- Female
- Genetic Markers -- genetics
- Genotype
- Homozygote
- Humans
- Japan -- ethnology
- Metabolic Diseases -- enzymology
- Metabolism, Inborn Errors -- enzymology
- Muscle, Skeletal -- metabolism
- Mutation -- genetics
- Phenotype
- Rhabdomyolysis -- enzymology
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Publication Type: Case Reports; Journal Article
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