Vega, Ana Isabel <br/><br/>
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.  [electronic resource] 

 -  Journal of inherited metabolic disease  Aug 2011 
 - 929-39 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1573-2665 
<br/><br/><label>Standard No.: </label>10.1007/s10545-011-9328-2  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cell Line<br/>Congenital Disorders of Glycosylation--genetics<br/>DNA Mutational Analysis<br/>Enzyme Stability--genetics<br/>Gene Expression Profiling<br/>Gene Expression Regulation, Enzymologic--genetics<br/>Humans<br/>Mutation, Missense--physiology<br/>Phosphotransferases (Phosphomutases)--deficiency<br/>Protein Folding