Kabir, Firoz <br/><br/>
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.  [electronic resource] 

 -  Molecular vision  2016 
 - 610-25 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1090-0535 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Consanguinity<br/>DNA Mutational Analysis<br/>Electroretinography<br/>Exons<br/>Eye Proteins--genetics<br/>Female<br/>Genetic Linkage<br/>Genome-Wide Association Study<br/>Humans<br/>Lod Score<br/>Loss of Function Mutation<br/>Male<br/>Microtubule-Associated Proteins<br/>Mutation<br/>Pedigree<br/>Polymerase Chain Reaction<br/>Retinitis Pigmentosa--diagnosis<br/>Young Adult