Escher, Pascal <br/><br/>
Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.  [electronic resource] 

 -  Ophthalmic genetics   
 - 80-86 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1744-5094 
<br/><br/><label>Standard No.: </label>10.1080/13816810.2017.1393825  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amino Acid Sequence<br/>DNA Mutational Analysis<br/>Female<br/>Fluorescein Angiography<br/>Genes, Dominant<br/>Genetic Association Studies<br/>Humans<br/>Male<br/>Middle Aged<br/>Molecular Sequence Data<br/>Mutation, Missense<br/>Pedigree<br/>Phenotype<br/>Protein Conformation<br/>RNA-Binding Proteins--genetics<br/>Retinitis Pigmentosa--diagnosis<br/>Ribonucleoproteins, Small Nuclear--genetics<br/>Tomography, Optical Coherence