Korman, Stanley H <br/><br/>
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.  [electronic resource] 

 -  Molecular genetics and metabolism  Dec 2006 
 - 332-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1096-7192 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2006.06.009  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Metabolism, Inborn Errors--enzymology<br/>DNA, Complementary--genetics<br/>Fatal Outcome<br/>Female<br/>Genes, Lethal<br/>Humans<br/>Infant, Newborn<br/>Membrane Transport Proteins--analysis<br/>Mutation<br/>RNA Splicing--genetics<br/>Sequence Analysis, DNA