Sakamoto, Osamu <br/><br/>
Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.  [electronic resource] 

 -  Journal of human genetics  2002 
 - 229-31 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1434-5161 
<br/><br/><label>Standard No.: </label>10.1007/s100380200030  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acyltransferases<br/>Cardiomyopathy, Dilated--genetics<br/>DNA Mutational Analysis<br/>DNA Primers--chemistry<br/>DNA-Binding Proteins--genetics<br/>Glutarates--metabolism<br/>Humans<br/>Infant<br/>Japan<br/>Male<br/>Muscular Diseases--genetics<br/>Mutation<br/>Mutation, Missense--genetics<br/>Neutropenia--genetics<br/>Polymerase Chain Reaction<br/>Proteins<br/>Syndrome<br/>Transcription Factors--genetics<br/>X Chromosome--genetics