Taroni, F <br/><br/>
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.  [electronic resource] 

 -  Nature genetics  Jul 1993 
 - 314-20 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1061-4036 
<br/><br/><label>Standard No.: </label>10.1038/ng0793-314  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Amino Acid Sequence<br/>Base Sequence<br/>Carnitine O-Palmitoyltransferase--deficiency<br/>DNA--genetics<br/>Enzyme Stability--genetics<br/>Gene Frequency<br/>Humans<br/>Molecular Sequence Data<br/>Myoglobinuria--enzymology<br/>Point Mutation<br/>Recurrence