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A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

Recently, we showed that homozygosity for the common 677(C-->T) mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, causing thermolability of the enzyme, is a risk factor for neural-tube defects (NTDs). We now report on another mutation in the same gene, the 1298(A-->C) mutation,...

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Detalhes bibliográficos
Main Authors: van der Put, N M, Gabreëls, F, Stevens, E M, Smeitink, J A, Trijbels, F J, Eskes, T K, van den Heuvel, L P, Blom, H J
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377082/
https://ncbi.nlm.nih.gov/pubmed/9545395
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