Fukao, Toshiyuki <br/><br/>
Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.  [electronic resource] 

 -  Molecular genetics and metabolism  Dec 2007 
 - 375-8 p.  digital 
<br/><br/> Publication Type: 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.2007.07.007  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acetyl-CoA C-Acetyltransferase--deficiency<br/>Alu Elements--genetics<br/>DNA Mutational Analysis<br/>Exons--genetics<br/>Female<br/>Gene Duplication<br/>Genome, Human--genetics<br/>Humans<br/>Mitochondrial Diseases--genetics<br/>Polymerase Chain Reaction<br/>Recombination, Genetic