Method of diagnosis of cone-rod distrophy

摘要

The present invention relates to a method of diagnosing or detecting cone-rod dystrophy in a mammal, particularly in a canine species. In particular, the invention relates to methods involving the detection of a deletion in the NPHP4 (nephroretinin 4) gene and associated biomarkers. The invention also provides primers, nucleic acid molecules, polypeptides, antibodies, as well as kits for use in such methods.