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Study pinpoints gene mutation

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Published: 8 Feb 2013

A large international study has identified a gene mutation that increases the risk of developing a common and potentially fatal condition called aortic valve disease. The work pinpoints a mutation on a gene responsible for the production of a type of cholesterol known as lipoprotein(a) or Lp(a). The lead author, Dr. George Thanassoulis of McGill University in Montreal, says the mutation is found in about 13 per cent of people of European descent.

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