Mineri, R <br/><br/>
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.  [electronic resource] 

 -  Journal of medical genetics  Jul 2008 
 - 473-8 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.2008.058271  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Amino Acid Sequence<br/>Base Sequence<br/>Brain Diseases, Metabolic, Inborn--genetics<br/>Carnitine--analogs & derivatives<br/>Child<br/>Child, Preschool<br/>Cohort Studies<br/>DNA--chemistry<br/>Female<br/>Humans<br/>Infant<br/>Male<br/>Mitochondrial Proteins--genetics<br/>Models, Molecular<br/>Molecular Sequence Data<br/>Mutation, Missense<br/>Nucleocytoplasmic Transport Proteins--genetics<br/>Polymerase Chain Reaction<br/>Polymorphism, Single Nucleotide<br/>Sequence Alignment