An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia. [electronic resource]
Producer: 20190225Description: 64 p. digitalISSN:- 1471-2350
- Acyl-CoA Dehydrogenase -- deficiency
- Butyryl-CoA Dehydrogenase -- genetics
- Carnitine -- analogs & derivatives
- Ethnicity -- genetics
- Female
- Gene Frequency
- Genetic Testing
- Humans
- Infant, Newborn
- Lipid Metabolism, Inborn Errors -- ethnology
- Male
- Mutation
- Neonatal Screening -- methods
- Polymorphism, Restriction Fragment Length
- Sequence Analysis, DNA
- Slovakia -- ethnology
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Publication Type: Journal Article
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