Veiga-da-Cunha, Maria <br/><br/>
Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.  [electronic resource] 

 -  Journal of inherited metabolic disease  Nov 2013 
 - 961-6 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1573-2665 
<br/><br/><label>Standard No.: </label>10.1007/s10545-012-9568-9  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alanine Transaminase--chemistry<br/>Amino Acid Sequence<br/>Cells, Cultured<br/>Child, Preschool<br/>Epilepsies, Myoclonic--genetics<br/>Female<br/>HEK293 Cells<br/>Humans<br/>Intellectual Disability--genetics<br/>Models, Molecular<br/>Molecular Sequence Data<br/>Mutation, Missense<br/>Phosphorus-Oxygen Lyases--genetics<br/>Polymorphism, Single Nucleotide--physiology<br/>Protein Folding<br/>Sequence Homology