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New genetic spanner in the works

By Philip Cohen

16 March 2002

THE human genome may be almost completely sequenced, but it’s still throwing up a few surprises. Italian researchers have discovered a new type of mutation that could cause a wide variety of diseases.

“No one could have predicted this phenomenon by computer or any analysis,” says Francisco Baralle of the International Centre for Genetic Engineering and Biotechnology in Trieste, whose team made the discovery. “It has really changed our thinking.”

To create a protein, cells make an RNA copy of the instructions encoded in DNA, and then use this to make the protein. But before these RNA blueprints can be…

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