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Researchers discover RP gene mutation

A genetic mutation that causes retinitis pigmentosa (RP) has been discovered after two decades of study.

Scientists at the University of Pennsylvania and the University of Texas-Houston have made the breakthrough, reports the July issue of the journal Nature Genetics. The defective gene is estimated to account for 2 per cent of RP cases. It is the 15th RP gene to be discovered, and it is believed that there are 15 others that are yet be identified. At the moment scientists involved do not know what the newly discovered gene does in its normal form, but Dr Eric Pierce, of the University of Pennsylvania, has stated it might affect the development of the eye's rods and cones.

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