Hoischen, Alexander <br/><br/>
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.  [electronic resource] 

 -  Nature genetics  Jun 2011 
 - 729-31 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.868  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Codon, Nonsense--genetics<br/>Craniosynostoses--etiology<br/>Face--abnormalities<br/>Humans<br/>Intellectual Disability--etiology<br/>Polymorphism, Single Nucleotide--genetics<br/>Repressor Proteins--genetics