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Article

The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.

Journal of medical genetics - 1 Dec 1998

de Franchis R, Buoninconti A, Mandato C, Pepe A, Sperandeo M P, Del Gado R, Capra V, Salvaggio E, Andria G, Mastroiacovo P

Abstract excerpt

OBJECTIVE: To estimate the risk for spina bifida associated with the common mutation C677T of the MTHFR gene in a country with a relatively low prevalence of NTDs. DESIGN: Case-control study. SUBJECTS: CASES: 203 living patients affected with spina bifida (173 myelomeningocele and 30 lipomeningocele); controls: 583 subjects (306 young adults and 277 unselected newborns) from northern and central-southern Italy....

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Identifiers

PMID: 9863598
DOI: 10.1136/jmg.35.12.1009
PMCID: PMC1051513

Genes

MTHFR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.PMID 9863598Read ↗

5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review.Semantic proximity Read ↗

Spina bifida as a multifactorial birth defect: Risk factors and genetic underpinningsSemantic proximity Read ↗

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

Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida.Semantic proximity Read ↗

Altered folate and vitamin B12 metabolism in families with spina bifida offspringSemantic proximity Read ↗

Decreased methylene tetrahydrofolate reductase activity due to the 677C-->T mutation in families with spina bifida offspring.Semantic proximity Read ↗

A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.Semantic proximity Read ↗

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifidaSemantic proximity Read ↗

Altered folate metabolism and disposition in mothers affected by a spina bifida pregnancy: influence of 677c --> t methylenetetrahydrofolate reductase and 2756a --> g methionine synthase genotypes.Semantic proximity Read ↗

[Methylenetetrahydrofolate reductase polymorphisms as risk factors for myelomeningocele].Semantic proximity Read ↗

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