Devriendt, K <br/><br/>
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).  [electronic resource] 

 -  Human genetics  Aug 1998 
 - 149-53 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>0340-6717 
<br/><br/><label>Standard No.: </label>10.1007/s004390050798  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adolescent<br/>Child<br/>Child, Preschool<br/>Coloboma--genetics<br/>DNA Mutational Analysis<br/>DNA-Binding Proteins--genetics<br/>Female<br/>Gene Duplication<br/>Humans<br/>Kidney--abnormalities<br/>Male<br/>Mutation, Missense<br/>Optic Disk--abnormalities<br/>PAX2 Transcription Factor<br/>Pedigree<br/>Renal Insufficiency--genetics<br/>Retinal Vessels--abnormalities<br/>Syndrome<br/>Transcription Factors--genetics