Willer, Tobias <br/><br/>
ISPD loss-of-function mutations disrupt dystroglycan  O-mannosylation and cause Walker-Warburg syndrome.  [electronic resource] 

 -  Nature genetics  May 2012 
 - 575-80 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, American Recovery and Reinvestment Act; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1546-1718 
<br/><br/><label>Standard No.: </label>10.1038/ng.2252  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cells, Cultured<br/>Dystroglycans--metabolism<br/>Fibroblasts--cytology<br/>Genetic Complementation Test<br/>Glycosylation<br/>Humans<br/>Infant<br/>Laminin--metabolism<br/>Mannose--metabolism<br/>Mannosyltransferases--genetics<br/>Mutation--genetics<br/>Nucleotidyltransferases--genetics<br/>Polysaccharides--metabolism<br/>Skin--cytology<br/>Walker-Warburg Syndrome--genetics