Vilarinho, L <br/><br/>
Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.  [electronic resource] 

 -  Journal of inherited metabolic disease  Dec 2001 
 - 883-4 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>10.1023/a:1013908728445  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenosine Triphosphatases--genetics<br/>Adenosine Triphosphate--biosynthesis<br/>Adolescent<br/>Adult<br/>DNA, Mitochondrial--genetics<br/>Energy Metabolism--genetics<br/>Female<br/>Humans<br/>Leigh Disease--enzymology<br/>Male<br/>Membrane Potentials--genetics<br/>Point Mutation