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. 2002 Jun;51(6):766-7.
doi: 10.1203/00006450-200206000-00018.

Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome

Bernadette Chadefaux-Vekemans  1 , Marie Coudé, François Muller, Jean François Oury, Allel Chabli, Jean Jaïs, Pierre Kamoun
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Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome

Bernadette Chadefaux-Vekemans et al. Pediatr Res. 2002 Jun.

Abstract

A methylenetetrahydrofolate reductase polymorphism (677 C/T mutation) was recently implicated in the etiology of Down syndrome. We studied a cohort of 85 women carrying fetuses with Down syndrome and found no difference in the frequencies of the three groups of subjects (C/C, C/T, T/T) between Down syndrome mothers and controls.

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