Hamilton, David <br/><br/>
A novel missense mutation in the gamma-glutamylcysteine synthetase catalytic subunit gene causes both decreased enzymatic activity and glutathione production.  [electronic resource] 

 -  Blood  Jul 2003 
 - 725-30 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0006-4971 
<br/><br/><label>Standard No.: </label>10.1182/blood-2002-11-3622  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Substitution<br/>Animals<br/>Binding Sites<br/>Catalytic Domain--genetics<br/>Cells, Cultured--enzymology<br/>Codon--genetics<br/>Fibroblasts--enzymology<br/>Glutamate-Cysteine Ligase--chemistry<br/>Glutathione--biosynthesis<br/>Homozygote<br/>Humans<br/>Kinetics<br/>Mice<br/>Mice, Knockout<br/>Models, Molecular<br/>Mutation, Missense<br/>Protein Conformation<br/>Recombinant Fusion Proteins--metabolism<br/>Structure-Activity Relationship<br/>Transfection