Kabir, Firoz <br/><br/>
Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.  [electronic resource] 

 -  Molecular vision  2013 
 - 1554-64 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1090-0535 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Base Sequence<br/>Chromosomes, Human, Pair 1--genetics<br/>Consanguinity<br/>Conserved Sequence--genetics<br/>DNA Mutational Analysis<br/>Electroretinography<br/>Family<br/>Female<br/>Fundus Oculi<br/>Genetic Predisposition to Disease<br/>Haplotypes--genetics<br/>Humans<br/>Lod Score<br/>Male<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>Pakistan<br/>Pedigree<br/>Retinal Dystrophies--genetics<br/>cis-trans-Isomerases--chemistry