Kara, Bülent <br/><br/>
Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene.  [electronic resource] 

 -  Molecular genetics and metabolism  Nov 2012 
 - 389-93 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2012.06.013  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>DNA, Mitochondrial--analysis<br/>Female<br/>Gene Expression<br/>Genetic Heterogeneity<br/>Genome, Mitochondrial<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Infant<br/>Leigh Disease--genetics<br/>Male<br/>Mitochondria--genetics<br/>Mitochondrial Myopathies--genetics<br/>Mitochondrial Proton-Translocating ATPases--genetics<br/>Mutation<br/>Pedigree<br/>Retinitis Pigmentosa--genetics<br/>Severity of Illness Index<br/>Young Adult