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Article

Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients.

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2008

Oliveira Kelly Cristina de, Bianco Bianca, Bianco Bianca Borsatto, Verreschi Ieda T N, Guedes Alexis Dourado, Galera Bianca Borsato, Galera Marcial Francis, Barbosa Caio P, Lipay Monica Vannucci Nunes

Abstract excerpt

BACKGROUND: Dysfunctions in the folate metabolism can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of this enzyme (C677T and A1298C) reduce its activity, but when associated with aneuploidy studies the results are conflicting. The objective of the present study is to analyze the MTHFR gene polymorphisms in women with Turner Syndrome and in a control group,...

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Source

Identifiers

PMID: 19169497
DOI: 10.1590/s0004-27302008000800028

Genes

MTHFR

Variants

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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Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients.PMID 19169497Read ↗

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