Contestabile, Maria T <br/><br/>
Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.  [electronic resource] 

 -  Molecular vision  2014 
 - 325-33 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1090-0535 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adaptor Proteins, Signal Transducing--genetics<br/>Adolescent<br/>Adult<br/>Aged<br/>Child<br/>Choroideremia--genetics<br/>DNA Mutational Analysis<br/>Electroretinography<br/>Family<br/>Female<br/>Fluorescein Angiography<br/>Fundus Oculi<br/>Humans<br/>Immunoblotting<br/>Italy<br/>Male<br/>Middle Aged<br/>Mutation--genetics<br/>Pedigree<br/>Phenotype<br/>RNA Splice Sites--genetics<br/>Tomography, Optical Coherence<br/>Visual Fields<br/>Young Adult