Pedersen, Christina B <br/><br/>
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.  [electronic resource] 

 -  Human genetics  Aug 2008 
 - 43-56 p.  digital 
<br/><br/> Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1432-1203 
<br/><br/><label>Standard No.: </label>10.1007/s00439-008-0521-9  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Butyryl-CoA Dehydrogenase--chemistry<br/>Dimerization<br/>Enzyme Activation--genetics<br/>Gene Frequency<br/>Humans<br/>Malonates--metabolism<br/>Metabolism, Inborn Errors--enzymology<br/>Mice<br/>Mice, Inbred BALB C<br/>Mice, Knockout<br/>Models, Molecular<br/>Mutation, Missense--physiology<br/>Polymorphism, Single Nucleotide<br/>Protein Binding<br/>Protein Folding<br/>Structure-Activity Relationship