Braunholz, Diana <br/><br/>
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.  [electronic resource] 

 -  European journal of human genetics : EJHG  Mar 2012 
 - 271-6 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2011.175  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cell Cycle Proteins<br/>DNA-Binding Proteins<br/>De Lange Syndrome--genetics<br/>Facies<br/>Humans<br/>Intercellular Signaling Peptides and Proteins--chemistry<br/>Mutation, Missense<br/>Phenotype<br/>Protein Binding--genetics<br/>Protein Interaction Domains and Motifs<br/>Proteins--genetics