Puisac, Beatriz <br/><br/>
Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.  [electronic resource] 

 -  International journal of molecular sciences  Mar 2018 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1422-0067 
<br/><br/><label>Standard No.: </label>10.3390/ijms19041010  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Substitution<br/>Child, Preschool<br/>Female<br/>Humans<br/>Hydroxymethylglutaryl-CoA Synthase--deficiency<br/>Infant<br/>Male<br/>Metabolism, Inborn Errors--enzymology<br/>Mitochondrial Proteins--deficiency<br/>Mutation, Missense<br/>Protein Multimerization