Timal, Sharita <br/><br/>
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.  [electronic resource] 

 -  Human molecular genetics  Oct 2012 
 - 4151-61 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/dds123  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Child<br/>Child, Preschool<br/>Cohort Studies<br/>Congenital Disorders of Glycosylation--genetics<br/>Exome<br/>Female<br/>Genome, Human<br/>Glycosylation<br/>Humans<br/>Infant<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Pedigree<br/>Proteins--genetics<br/>Sequence Analysis, DNA<br/>Young Adult