Rivera, Henry <br/><br/>
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.  [electronic resource] 

 -  BMC nephrology  Sep 2013 
 - 195 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1471-2369 
<br/><br/><label>Standard No.: </label>10.1186/1471-2369-14-195  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alkalosis, Respiratory--genetics<br/>Female<br/>Genetic Markers--genetics<br/>Humans<br/>Hypertension, Pulmonary--genetics<br/>Hyperuricemia--genetics<br/>Infant<br/>Mitochondrial Proteins--genetics<br/>Mutation--genetics<br/>Polymorphism, Single Nucleotide--genetics<br/>Renal Insufficiency--genetics<br/>Serine-tRNA Ligase--genetics<br/>Syndrome