Perrault, Isabelle <br/><br/>
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.  [electronic resource] 

 -  Human mutation  Apr 2007 
 - 416 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.9485  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Alleles<br/>Antigens, Neoplasm--genetics<br/>Cell Cycle Proteins<br/>Child<br/>Child, Preschool<br/>Cytoskeletal Proteins<br/>Exons<br/>Frameshift Mutation<br/>Humans<br/>Infant<br/>Introns<br/>Linkage Disequilibrium<br/>Neoplasm Proteins--genetics<br/>Optic Atrophy, Hereditary, Leber--genetics