The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive. [electronic resource]
Producer: 20050127Description: 4053-63 p. digitalISSN:- 0014-2956
- Acyl-CoA Dehydrogenase -- chemistry
- Amino Acid Substitution
- Animals
- Circular Dichroism -- methods
- Enzyme Stability
- Escherichia coli -- genetics
- Fibroblasts -- metabolism
- Glutamic Acid -- genetics
- Histidine -- genetics
- Humans
- Infant, Newborn
- Lymphocytes -- cytology
- Lysine -- genetics
- Mitochondria, Liver -- metabolism
- Models, Molecular
- Mutagenesis, Site-Directed
- Myristic Acid -- metabolism
- Neonatal Screening
- Oxidation-Reduction
- Rats
- Recombinant Proteins -- chemistry
- Structure-Activity Relationship
- Tyrosine -- genetics
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Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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