Bénit, Paule <br/><br/>
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.  [electronic resource] 

 -  Human genetics  May 2003 
 - 563-6 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0340-6717 
<br/><br/><label>Standard No.: </label>10.1007/s00439-002-0884-2  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Codon, Nonsense<br/>Electron Transport Complex I<br/>Female<br/>Humans<br/>Leigh Disease--genetics<br/>Liver--enzymology<br/>Male<br/>Microsatellite Repeats<br/>Mitochondrial Diseases--genetics<br/>Muscle, Skeletal--enzymology<br/>NADH Dehydrogenase<br/>NADH, NADPH Oxidoreductases--deficiency<br/>Pedigree