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Article

Loss of function polymorphisms in NAT1 protect against spina bifida.

Human genetics - 1 Aug 2006

Jensen Liselotte E, Hoess Karen, Mitchell Laura E, Whitehead Alexander S

Abstract excerpt

Periconceptional folic acid supplementation reduces the risk of having a child with spina bifida. N-acetyltransferase 1 (NAT1) participates in the catabolism of folates and the acetylation of aromatic and heterocyclic amines. Hence, functional polymorphisms in NAT1, the gene encoding NAT1, could influence the risk of spina bifida via either folate catabolism or acetylation of exogenous agents. Individuals with...

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Identifiers

PMID: 16680433
DOI: 10.1007/s00439-006-0181-6

Genes

NAT1

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Loss of function polymorphisms in NAT1 protect against spina bifida.PMID 16680433Read ↗

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The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.Semantic proximity Read ↗

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