Martín, M Á <br/><br/>
The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.  [electronic resource] 

 -  Clinical genetics  01 2017 
 - 46-53 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.12815  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Acidosis, Lactic<br/>Adolescent<br/>Amino Acid Sequence<br/>Brain Diseases<br/>Cardiomyopathies<br/>Carrier Proteins--genetics<br/>Exome--genetics<br/>Family Health<br/>Female<br/>Genetic Predisposition to Disease--genetics<br/>Homozygote<br/>Humans<br/>Male<br/>Mitochondrial Diseases<br/>Mutation, Missense<br/>Optic Nerve Diseases<br/>Pedigree<br/>Polymorphism, Single Nucleotide<br/>RNA-Binding Proteins<br/>Sequence Analysis, DNA<br/>Sequence Homology, Amino Acid<br/>Syndrome<br/>Young Adult