Nikopoulos, Konstantinos <br/><br/>
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.  [electronic resource] 

 -  Scientific reports  Sep 2015 
 - 13902 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>2045-2322 
<br/><br/><label>Standard No.: </label>10.1038/srep13902  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Amino Acid Substitution<br/>Cadherin Related Proteins<br/>Cadherins--chemistry<br/>Case-Control Studies<br/>Chromosome Mapping<br/>Consanguinity<br/>DNA Mutational Analysis<br/>Electroretinography<br/>Female<br/>Fluorescein Angiography<br/>Genes, Recessive<br/>Homozygote<br/>Humans<br/>Introns<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Nerve Tissue Proteins--chemistry<br/>Pedigree<br/>RNA Splice Sites<br/>Retinal Dystrophies--diagnosis<br/>Sequence Alignment<br/>Spain<br/>White People--genetics