Westphal, Vibeke <br/><br/>
Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic.  [electronic resource] 

 -  Human mutation  Nov 2003 
 - 420-1 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.9195  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Apoptosis Regulatory Proteins<br/>Calcium-Binding Proteins--genetics<br/>Child, Preschool<br/>Congenital Disorders of Glycosylation--diagnosis<br/>Female<br/>Gene Frequency<br/>Glycosylation<br/>Homozygote<br/>Humans<br/>Point Mutation