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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2004-3-16
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pubmed:abstractText |
Several population studies have shown that patients with neural tube defects (NTD), have a higher frequency of a genetic mutation related with thermolability of the enzyme 5,10-metylentetrahydrofolate reductase (MTHFR). There are regional and ethnic variations in the genotypic or allelic frequency of this mutation and its possible relationship with NTD and others congenital anomalies.
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pubmed:language |
spa
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0034-9887
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
131
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1399-404
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15022402-Adolescent,
pubmed-meshheading:15022402-Adult,
pubmed-meshheading:15022402-Alleles,
pubmed-meshheading:15022402-Case-Control Studies,
pubmed-meshheading:15022402-Child,
pubmed-meshheading:15022402-Chile,
pubmed-meshheading:15022402-Female,
pubmed-meshheading:15022402-Genotype,
pubmed-meshheading:15022402-Humans,
pubmed-meshheading:15022402-Methylenetetrahydrofolate Dehydrogenase (NAD+),
pubmed-meshheading:15022402-Middle Aged,
pubmed-meshheading:15022402-Mothers,
pubmed-meshheading:15022402-Mutation,
pubmed-meshheading:15022402-Polymorphism, Genetic,
pubmed-meshheading:15022402-Spinal Dysraphism
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pubmed:year |
2003
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pubmed:articleTitle |
[Frequency of C677T polymorphism of 5, 10-methylenetetrahydrofolate reductase (MTHFR) in Chilean mothers of spina bifida cases and controls ].
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pubmed:affiliation |
Programa de Genética y Enfermedades Metabólicas, INTA, Universidad de Chile, Macul 5540, casilla 138-11, Santiago de Chile.
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pubmed:publicationType |
Journal Article,
English Abstract,
Research Support, Non-U.S. Gov't
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