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The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects

25 Jun 2015

Abstract excerpt

Almost 15 years ago it was hypothesized that polymorphisms of genes encoding enzymes involved in folate metabolism could lead to aberrant methylation of peri-centromeric regions of chromosome 21, favoring its abnormal segregation during maternal meiosis. Subsequently, more than 50 small case-control studies investigated whether or not maternal polymorphisms of folate pathway genes could be risk factors for the...

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Share to Epigenetics and DNA Methylation
Share to Folate and B Vitamins Research
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PMID: 26161087
DOI: 10.3389/fgene.2015.00223

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