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Article

Betaine-homocysteine methyltransferase 742G>A polymorphism and risk of down syndrome offspring in a Brazilian population.

Molecular biology reports - 1 Aug 2013

Amorim Márcia R, Moura Cláudia M, Gomes Aline D, Barboza Hazel N, Lopes Roberta B, Ribeiro Márcia G, Costa Lima Marcelo A

Abstract excerpt

Down syndrome (DS) is the most common form of mental retardation of genetic etiology. Several polymorphisms in genes involved with the folic acid cycle have been associated to the risk of bearing a DS child; however, the results are controversial. Betaine-homocysteine methyltransferase (BHMT) is a key enzyme of folate pathway, and catalyzes the remethylation of homocysteine into methionine. Recent studies suggest...

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Source

Identifiers

PMID: 23645037
DOI: 10.1007/s11033-013-2563-x

Genes

BHMT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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