Methylenetetrahydrofolate reductase and spina bifida: Evaluation of level of defect and maternal genotypic risk in Hispanics

A. Volcik, Kelly; H. Blanton, Susan; H. Tyerman, Gayle; Jong, S.T.; Rott, E.J.; Page, T.; Romaine, N.K.; Northrup, Hope

doi:10.1002/1096-8628(20001106)95:1<21::aid-ajmg6>3.0.co;2-m

Public

Methylenetetrahydrofolate reductase and spina bifida: Evaluation of level of defect and maternal genotypic risk in Hispanics

Shared by NobleBlocks on Jan 1, 2000 • 12:00 AM UTC

Authors:

Kelly A. Volcik

Susan H. Blanton

Gayle H. Tyerman

Abstract

The C677T and A1298C mutations in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene are each associated with reduced MTHFR activity. The C677T mutation in the heterozygous and homozygous state correlates with increased enzyme thermolability, with homozygous mutant genotypes showing significa...

Subject

Methylenetetrahydrofolate reductase

Spina bifida

Genotype

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