Simpson, David A <br/><br/>
Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.  [electronic resource] 

 -  Journal of medical genetics  Mar 2011 
 - 145-51 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.2010.083568  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Base Sequence<br/>Cyclic Nucleotide Phosphodiesterases, Type 6--genetics<br/>Female<br/>Genetic Diseases, Inborn--diagnosis<br/>Genetic Testing<br/>Heterozygote<br/>High-Throughput Nucleotide Sequencing--methods<br/>Humans<br/>Male<br/>Molecular Sequence Data<br/>Mutation, Missense<br/>Pedigree<br/>Retinitis Pigmentosa--diagnosis