Linked Life Data

20887110

Source:http://linkedlifedata.com/resource/pubmed/id/20887110

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2010-10-4
pubmed:abstractText
Neural tube defects (NTDs) are among the most common congenital malformations worldwide. Their etiology and exact mechanisms of development are incompletely understood. Many enzymes involved in folate metabolism and the genes encoding these enzymes have been studied as candidates in their etiology. A mutation in the methylenetetrahydrofolate reductase (MTHFR) gene--a C-->T transition at nucleotide 677--is one among them. The mutation results in substitution of alanine by valine at a functionally important site in the enzyme. It has been shown to be a risk factor for development of NTDs in certain populations. The present study was conducted to evaluate the role of MTHFR 677 C-->T mutation as a risk factor for NTD in the South Indian population and to determine the relative importance of the genotypes in the affected child and its mother.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1933-0715
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
6
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
364-7
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Impact of 5,10-methylenetetrahydrofolate reductase gene polymorphism on neural tube defects.
pubmed:affiliation
Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't