ABSTRACT
Mutations in the gene for methylenetetrahydrofolate reductase (MTHFR) have been implicated as a risk factor in the formation of neural tube defects. We investigated this gene in a series of 65 sporadic American Caucasians patients with lumbosacral NTD and their unaffected parents, using both case-control design and assessment of linkage disequilibrium. We found no evidence to support mutations in MTHFR as a significant risk factor for NTD in this population.
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Received April 28, 1997; Revised and Accepted June 20, 1997
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Speer, M., Worley, G., Mackey, J. et al. The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. Neurogenetics 1, 149–150 (1997). https://doi.org/10.1007/s100480050022
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DOI: https://doi.org/10.1007/s100480050022