Mollet, Julie <br/><br/>
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.  [electronic resource] 

 -  American journal of human genetics  Mar 2008 
 - 623-30 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2007.12.022  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Amino Acid Sequence<br/>Benzoquinones--analysis<br/>Brain--enzymology<br/>Cerebellar Ataxia--genetics<br/>Female<br/>Haplotypes<br/>Humans<br/>Magnetic Resonance Imaging<br/>Male<br/>Molecular Sequence Data<br/>Muscle, Skeletal--chemistry<br/>Mutation, Missense<br/>Pedigree<br/>Seizures--genetics<br/>Ubiquinone--analysis