摘要 |
<p>Methods and means are described for diagnosing a disease or a predisposition to disease by genotyping a RPGR gene from an individual and identifying the presence of one or more disease causing mutation(s). Methods of treatment, kits for diagnostic purposes and an isolated RPGR gene including all or some of a range of mutations are also described as well as methods of isolating molecules that modulate a RPGR gene.</p> |