Hansen, L L <br/><br/>
Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.  [electronic resource] 

 -  Journal of inherited metabolic disease  1991 
 - 140-51 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0141-8955 
<br/><br/><label>Standard No.: </label>10.1007/BF01800586  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Base Sequence<br/>DNA--genetics<br/>Female<br/>Humans<br/>Immunoblotting<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Polymerase Chain Reaction<br/>Pyruvate Dehydrogenase Complex--genetics<br/>Pyruvate Dehydrogenase Complex Deficiency Disease<br/>X Chromosome