Krawitz, Peter M <br/><br/>
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.  [electronic resource] 

 -  Nature genetics  Oct 2010 
 - 827-9 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1546-1718 
<br/><br/><label>Standard No.: </label>10.1038/ng.653  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Animals<br/>CHO Cells<br/>Child, Preschool<br/>Cricetinae<br/>Cricetulus<br/>Databases, Genetic<br/>Exons--genetics<br/>Family Health<br/>Female<br/>Genetic Predisposition to Disease<br/>Glycosylphosphatidylinositols--metabolism<br/>Humans<br/>Hyperphosphatemia--genetics<br/>Infant<br/>Intellectual Disability--genetics<br/>Male<br/>Mannosyltransferases--genetics<br/>Mutation--genetics<br/>Open Reading Frames--genetics<br/>Syndrome<br/>Transfection