Yuruk Yildirim, Zeynep <br/><br/>
Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.  [electronic resource] 

 -  European journal of medical genetics  Jan 2020 
 - 103621 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2019.01.011  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Ataxia--genetics<br/>Child<br/>Female<br/>Homozygote<br/>Humans<br/>Kidney--metabolism<br/>Kidney Failure, Chronic--genetics<br/>Male<br/>Mitochondrial Diseases--genetics<br/>Muscle Weakness--genetics<br/>Mutation--genetics<br/>Nephrotic Syndrome--genetics<br/>Phenotype<br/>Siblings<br/>Ubiquinone--analogs & derivatives