Cross, Sally H <br/><br/>
The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.  [electronic resource] 

 -  Human molecular genetics  Jan 2011 
 - 223-34 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddq457  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Animals<br/>Coloboma--genetics<br/>DNA-Binding Proteins--metabolism<br/>Gene Expression Regulation, Developmental--genetics<br/>Genotype<br/>Humans<br/>Mice<br/>Mice, Inbred BALB C<br/>Mice, Inbred C3H<br/>Mice, Inbred C57BL<br/>Models, Animal<br/>Mutation, Missense<br/>PAX2 Transcription Factor--genetics<br/>Phenotype<br/>Point Mutation<br/>Renal Insufficiency--genetics<br/>Transcriptional Activation--genetics<br/>Vesico-Ureteral Reflux--genetics