Tadiboyina, Venu T <br/><br/>
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.  [electronic resource] 

 -  American journal of medical genetics. Part A  Jun 2005 
 - 289-91 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4825 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.30748  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Base Sequence<br/>Cystathionine--urine<br/>Cystathionine gamma-Lyase--genetics<br/>DNA--chemistry<br/>DNA Mutational Analysis<br/>DNA, Mitochondrial--genetics<br/>Hepatolenticular Degeneration--enzymology<br/>Humans<br/>Infant<br/>Mitochondrial Diseases--enzymology<br/>Mutation<br/>Phosphotransferases (Alcohol Group Acceptor)--genetics<br/>Siblings<br/>Syndrome