Kelberman, Daniel <br/><br/>
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.  [electronic resource] 

 -  Human molecular genetics  May 2014 
 - 2511-26 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/ddt643  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Animals<br/>Child<br/>Codon, Nonsense<br/>Coloboma--genetics<br/>Consanguinity<br/>DNA Mutational Analysis<br/>DNA-Binding Proteins<br/>Eye--embryology<br/>Eye Proteins--genetics<br/>Female<br/>Gene Expression<br/>Genes, Recessive<br/>Genetic Association Studies<br/>Genetic Predisposition to Disease<br/>HEK293 Cells<br/>Homeodomain Proteins--genetics<br/>Homozygote<br/>Humans<br/>Male<br/>Mice, Inbred C57BL<br/>Mice, Knockout<br/>PAX2 Transcription Factor--genetics<br/>PAX6 Transcription Factor<br/>Paired Box Transcription Factors--genetics<br/>Pedigree<br/>Polymorphism, Single Nucleotide<br/>Repressor Proteins--genetics<br/>Transcription Factors--genetics