The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.
O'Reilly, Linda
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] - European journal of biochemistry Oct 2004 - 4053-63 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
0014-2956
10.1111/j.1432-1033.2004.04343.x doi
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
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] - European journal of biochemistry Oct 2004 - 4053-63 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
0014-2956
10.1111/j.1432-1033.2004.04343.x doi
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