… with familial cases of spina bifida is being performed at … of mutant genes, the molecular
characterization of those genes, and … mutated genes and abnormal gene products produce spinal …

… When a receptor-positive cell line containing a normal copy of the folate receptor gene
was transfected with a plasmid containing one of the mutant alleles, their ability to bind folate …

… Data presented in this study illustrate that Hispanics in both controls and SB families
have a relatively high frequency of the 677T mutant allele. Although the C677T variant allele …

… for discovering causative mutations in candidate genes associated with … to delineate the
genetic etiology of spina bifida (SB). … of genes in folate metabolism and spina bifida. Am J Obstet …

… America has seen a decline in cases of spina bifida (https://www.… and contrast spina bifida
in humans and spina bifida in the … Spinal defects encompass mouse mutants with spina bifida (…

… , and PAX9 genes and of the complete PAX3 gene. Inone patient with spina bifida, a mutation
in the … Heterozygous carriers show a mutant allelic band in addition to the wild type band. …

… in mice carrying mutant alleles of many different genes, whereas isolated spinal NTDs (spina
bifida) occur in … Spina bifida occurs at high frequency in the Axial defects (Axd) mouse …

… candidate genes which influence susceptibility to spina bifida and anencephaly come from
the identification of folate-associated risk factors and from studies of mouse mutants showing …

… for various recombination fractions assuming equal marker allele frequencies for the
microsatellite markers. Allele frequencies for the C677T mutation used were as observed in the …

… involves genetic and environmental factors, which may be why major genes contributing to
… double-mutant mice have a phenotype reminiscent of an extreme form of spina bifida occulta …