The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots. [electronic resource]
Producer: 20050915Description: 557-62 p. digitalISSN:- 0141-8955
- Alleles
- Butyryl-CoA Dehydrogenase -- deficiency
- Carnitine -- blood
- Fatty Acids -- metabolism
- Genetic Predisposition to Disease
- Genetic Variation
- Heterozygote
- Homozygote
- Humans
- Infant, Newborn
- Lipid Metabolism, Inborn Errors -- metabolism
- Neonatal Screening
- Oxygen -- metabolism
- Polymorphism, Genetic
- Polymorphism, Restriction Fragment Length
- Time Factors
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Publication Type: Journal Article
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