Gillis, Lynette A <br/><br/>
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.  [electronic resource] 

 -  American journal of human genetics  Oct 2004 
 - 610-23 p.  digital 
<br/><br/> Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/424698  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Cell Cycle Proteins<br/>Conserved Sequence--genetics<br/>DNA Mutational Analysis<br/>De Lange Syndrome--genetics<br/>Humans<br/>In Situ Hybridization, Fluorescence<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Phenotype<br/>Polymorphism, Genetic<br/>Proteins--genetics<br/>Sequence Alignment