An unusual melting curve on a LightCycler due to a new mutation in methylenetetrahydrofolate reductase.

Abstract excerpt

Methylenetetrahydrofolate reductase (MTHFR; E.C. 1.5.1.20) catalyzes the reduction of 5,10-methylenetetrahydofolate to 5-methytetrahydrofolate, and its activity is affected by a number of polymorphisms and mutations, the best known being MTHFR c.677C > T (OMIM 607093.003). The c.677C > T mutation is often analyzed by melting curve analysis after real-time polymerase chain reaction. We observed in one patient upon...

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