Mohamed, Miski <br/><br/>
Normal glycosylation screening does not rule out SRD5A3-CDG.  [electronic resource] 

 -  European journal of human genetics : EJHG  Oct 2011 
 - 1019 p.  digital 
<br/><br/> Publication Type: Letter; Comment 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2010.260  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>3-Oxo-5-alpha-Steroid 4-Dehydrogenase--genetics<br/>Frameshift Mutation--genetics<br/>Genes, Recessive--genetics<br/>Homozygote<br/>Humans<br/>Intellectual Disability--genetics<br/>Membrane Proteins--genetics<br/>Sequence Analysis, DNA--methods