Ivanov, Ivan S <br/><br/>
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.  [electronic resource] 

 -  Molecular genetics and metabolism   
 - 76-83 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1096-7206 
<br/><br/><label>Standard No.: </label>10.1016/j.ymgme.2014.07.017  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acidosis, Lactic--diagnosis<br/>Adolescent<br/>Child<br/>Child, Preschool<br/>Codon<br/>Consanguinity<br/>DNA Mutational Analysis<br/>Female<br/>Founder Effect<br/>Genotype<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Mutation<br/>Phenotype<br/>Pyruvate Dehydrogenase Complex--genetics<br/>Romania<br/>Slovakia