Fradin, Mélanie <br/><br/>
Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45.  [electronic resource] 

 -  Ophthalmic genetics  09 2016 
 - 357-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter 
<br/><br/><label>ISSN: </label>1744-5094 
<br/><br/><label>Standard No.: </label>10.3109/13816810.2015.1087578  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Codon, Nonsense<br/>Cyclic Nucleotide-Gated Cation Channels--genetics<br/>Electroretinography<br/>Female<br/>Homozygote<br/>Humans<br/>Male<br/>Middle Aged<br/>Pedigree<br/>Polymerase Chain Reaction<br/>Polymorphism, Single Nucleotide<br/>Retina--physiology<br/>Retinitis Pigmentosa--diagnosis<br/>Tomography, Optical Coherence