Durand, Christelle M <br/><br/>
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.  [electronic resource] 

 -  Human mutation  01 2018 
 - 140-151 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.23359  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Amino Acid Substitution<br/>Cytochrome P450 Family 2--chemistry<br/>DNA Mutational Analysis<br/>Enzyme Activation<br/>Gene Expression<br/>Genetic Association Studies<br/>HEK293 Cells<br/>Humans<br/>Models, Molecular<br/>Mutation, Missense<br/>Oxidation-Reduction<br/>Phenotype<br/>Protein Conformation<br/>Spastic Paraplegia, Hereditary--diagnosis