Quintana, E <br/><br/>
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.  [electronic resource] 

 -  Clinical genetics  May 2010 
 - 474-82 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/j.1399-0004.2009.01313.x  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Blotting, Western<br/>Case-Control Studies<br/>DNA Mutational Analysis<br/>Female<br/>Haplotypes--genetics<br/>Humans<br/>Male<br/>Mutation--genetics<br/>Patient Selection<br/>Polymorphism, Single Nucleotide--genetics<br/>Pyruvate Dehydrogenase (Lipoamide)--genetics<br/>Pyruvate Dehydrogenase Complex Deficiency Disease--enzymology