DesRoches, Caro-Lyne <br/><br/>
Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.  [electronic resource] 

 -  Human mutation  09 2016 
 - 926-32 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.23018  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Amidinotransferases--deficiency<br/>Amino Acid Metabolism, Inborn Errors--genetics<br/>Child<br/>Child, Preschool<br/>Cloning, Molecular<br/>Developmental Disabilities--genetics<br/>Female<br/>HeLa Cells<br/>Humans<br/>Infant<br/>Intellectual Disability--genetics<br/>Male<br/>Mutation, Missense<br/>Speech Disorders--genetics<br/>Young Adult