Radziwon, Alina <br/><br/>
Single-base substitutions in the CHM promoter as a cause of choroideremia.  [electronic resource] 

 -  Human mutation  06 2017 
 - 704-715 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.23212  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adaptor Proteins, Signal Transducing--genetics<br/>Choroideremia--complications<br/>Female<br/>Genetic Diseases, X-Linked<br/>Genetic Predisposition to Disease<br/>Humans<br/>Male<br/>Mutation<br/>Pedigree<br/>Promoter Regions, Genetic--genetics<br/>Retina--metabolism<br/>Retinal Degeneration--complications