Lebon, Sophie <br/><br/>
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.  [electronic resource] 

 -  Molecular genetics and metabolism   
 - 104-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1096-7192 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2007.05.010  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Base Sequence<br/>DNA Mutational Analysis<br/>Electron Transport Complex I--deficiency<br/>Exons--genetics<br/>Female<br/>Humans<br/>Infant<br/>Introns--genetics<br/>Leigh Disease--genetics<br/>Male<br/>Mitochondria--genetics<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>NADH Dehydrogenase--genetics<br/>Pedigree<br/>RNA Splicing