Maniura-Weber, Katharina <br/><br/>
A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.  [electronic resource] 

 -  European journal of human genetics : EJHG  Jun 2004 
 - 509-12 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1018-4813 
<br/><br/><label>Standard No.: </label>10.1038/sj.ejhg.5201185  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Base Sequence<br/>Chromosome Segregation<br/>DNA, Mitochondrial--chemistry<br/>Electron Transport Complex IV--metabolism<br/>Female<br/>Gastrointestinal Diseases--genetics<br/>Hearing Loss, Sensorineural--genetics<br/>Humans<br/>Mitochondrial Encephalomyopathies--genetics<br/>Molecular Sequence Data<br/>Muscle Fibers, Skeletal--enzymology<br/>Ophthalmoplegia--genetics<br/>Point Mutation--genetics<br/>RNA, Transfer, Trp--genetics<br/>Syndrome