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Article

[Frequency of C677T polymorphism of 5, 10-methylenetetrahydrofolate reductase (MTHFR) in Chilean mothers of spina bifida cases and controls ].

Revista medica de Chile - 1 Dec 2003

Nitsche Felipe, Alliende M Angélica, Santos J Luis, Pérez Francisco, Santa María Lorena, Hertrampf Eva, Cortés Fanny

Abstract excerpt

BACKGROUND: Several population studies have shown that patients with neural tube defects (NTD), have a higher frequency of a genetic mutation related with thermolability of the enzyme 5,10-metylentetrahydrofolate reductase (MTHFR). There are regional and ethnic variations in the genotypic or allelic frequency of this mutation and its possible relationship with NTD and others congenital anomalies. AIM: To estimate...

Topics

Adolescent
Adult
Alleles
Case-Control Studies
Child
Chile
Female
Genotype
Humans
Methylenetetrahydrofolate Dehydrogenase (NAD+)
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mothers

Mutation

Polymorphism, Genetic

Spinal Dysraphism

Source

Identifiers

PMID: 15022402

Genes

MTHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-15022402-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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