Thiadens, Alberta A H J <br/><br/>
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.  [electronic resource] 

 -  American journal of human genetics  Aug 2009 
 - 240-7 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2009.06.016  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Case-Control Studies<br/>Chromosome Mapping<br/>Chromosomes, Human, Pair 10<br/>Color Vision Defects--genetics<br/>Consanguinity<br/>Cyclic Nucleotide Phosphodiesterases, Type 6--genetics<br/>Electroretinography<br/>Eye Proteins--genetics<br/>Female<br/>Frameshift Mutation<br/>Genes, Recessive<br/>Genome-Wide Association Study<br/>Homozygote<br/>Humans<br/>Male<br/>Middle Aged<br/>Molecular Sequence Data<br/>Mutation<br/>Mutation, Missense<br/>Pedigree<br/>Polymorphism, Single Nucleotide<br/>Retinal Cone Photoreceptor Cells--enzymology