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Article

Maternal MTHFR polymorphism (677 C-T) and risk of Down's syndrome child: meta-analysis.

Journal of genetics - 1 Sept 2016

Kaur Amandeep, Kaur Anupam

Abstract excerpt

Methylenetetrahydrofolate reductase (MTHFR) is the most important gene that participates in folate metabolism. Presence of valine instead of alanine at position 677 and elevated levels of homocystein causes DNA hypomethylation which in turn favours nondisjunction. In this study, we conducted a meta-analysis to establish link between maternal single-nucleotide polymorphism (SNP) and birth of Down's syndrome (DS)...

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Share to Amino Acid Substitution
Share to DNA Methylation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Methylenetetrahydrofolate Reductase (NADPH2)

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Source

Identifiers

PMID: 27659321
DOI: 10.1007/s12041-016-0657-7

Genes

MTHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Maternal MTHFR polymorphism (677 C-T) and risk of Down's syndrome child: meta-analysis.PMID 27659321Read ↗

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