Liu, Sanmei <br/><br/>
Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.  [electronic resource] 

 -  International journal of molecular medicine  Jun 2016 
 - 1528-34 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1791-244X 
<br/><br/><label>Standard No.: </label>10.3892/ijmm.2016.2551  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>AC133 Antigen--genetics<br/>Adult<br/>Case-Control Studies<br/>Exome<br/>Family<br/>Female<br/>Frameshift Mutation<br/>Genes, Recessive<br/>Genetic Association Studies<br/>Genotype<br/>High-Throughput Nucleotide Sequencing<br/>Homozygote<br/>Humans<br/>Leukocytes, Mononuclear--metabolism<br/>Male<br/>Pedigree<br/>Phenotype<br/>Retinitis Pigmentosa--genetics