Fukao, Toshiyuki <br/><br/>
A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency.  [electronic resource] 

 -  Molecular genetics and metabolism  Nov 2006 
 - 280-2 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.2006.04.014  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Pairing<br/>Base Sequence<br/>Coenzyme A-Transferases--deficiency<br/>DNA Mutational Analysis<br/>Exons--genetics<br/>Female<br/>Humans<br/>Infant<br/>Introns--genetics<br/>Molecular Sequence Data<br/>RNA Splice Sites--genetics<br/>RNA Splicing--genetics<br/>Sequence Deletion