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Article

New 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): a risk factor for spina bifida acting in mothers during pregnancy?

American journal of medical genetics. Part A - 1 Feb 2004

Johnson William G, Stenroos Edward S, Spychala John R, Chatkupt Sansnee, Ming Sue X, Buyske Steven

Abstract excerpt

Up to 72% of spina bifida cystica (SB) is preventable by maternal periconceptual folic acid supplementation. The C677T allele of the methylenetetrahydrofolate reductase (MTHFR) gene and some other functional polymorphisms are risk factors for SB in some populations. However, despite extensive study, the genetic risk factors for SB are incompletely understood. Polymorphic alleles that diminish bioavailability of...

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Base Sequence
Homozygote
Introns
Polymorphism, Genetic
Pregnancy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sequence Deletion

Spinal Dysraphism

Tetrahydrofolate Dehydrogenase

Source

Identifiers

PMID: 14735580
DOI: 10.1002/ajmg.a.20505

Genes

DHFR
MTHFR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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New 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): a risk factor for spina bifida acting in mothers during pregnancy?PMID 14735580Read ↗

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