Tessa, Alessandra <br/><br/>
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.  [electronic resource] 

 -  Human mutation  May 2009 
 - 741-8 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.20930  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amino Acid Transport Systems, Basic--chemistry<br/>Biological Transport<br/>Child<br/>Child, Preschool<br/>Citrulline--analogs & derivatives<br/>Escherichia coli<br/>Female<br/>Humans<br/>Hyperammonemia--epidemiology<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Middle Aged<br/>Mitochondrial Membrane Transport Proteins<br/>Mutant Proteins--isolation & purification<br/>Mutation--genetics<br/>Ornithine--blood<br/>Protein Structure, Secondary<br/>Syndrome