Soens, Zachry T <br/><br/>
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.  [electronic resource] 

 -  Genetics in medicine : official journal of the American College of Medical Genetics  10 2016 
 - 1044-51 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1530-0366 
<br/><br/><label>Standard No.: </label>10.1038/gim.2015.205  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Animals<br/>Antigens, Neoplasm--genetics<br/>Child, Preschool<br/>Cilia--genetics<br/>Exome--genetics<br/>Female<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Leber Congenital Amaurosis--genetics<br/>Male<br/>Mutation<br/>Photoreceptor Cells--metabolism<br/>Retinal Degeneration--genetics<br/>Zebrafish