Estrada-Cuzcano, Alejandro <br/><br/>
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.  [electronic resource] 

 -  American journal of human genetics  Jan 2012 
 - 102-9 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.2011.11.015  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Age of Onset<br/>Base Sequence<br/>Child<br/>Child, Preschool<br/>Chromosome Mapping<br/>Consanguinity<br/>DNA Mutational Analysis<br/>Exons<br/>Female<br/>Genes, Recessive<br/>Humans<br/>Infant<br/>Introns<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Polymorphism, Single Nucleotide<br/>Proteins--genetics<br/>Retinal Dystrophies--genetics<br/>Retinal Pigment Epithelium--metabolism