| 摘要 |
Methods and means are described for diagnosing a disease or a predisposition to disease by genotyping a <i>RPGR</i> 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 <i>RPGR</i> gene including all or some of a range of mutations are also described as well as methods of isolating molecules that modulate a <i>RPGR</i> gene. |
