Article
Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene.
European journal of human genetics : EJHG - 1 Sept 2000
Homberger A, Linnebank M, Winter C, Willenbring H, Marquardt T, Harms E, Koch H G
Abstract excerpt
The human 5,10-methylenetetrahydrofolate reductase (MTHFR) represents a major enzyme in the folate-dependent regulation of methionine and homocysteine concentrations. Different MTHFR mutations lead either to severe homocystinuria as a multisystem disorder or to moderate hyperhomocysteinaemia, which is a common risk factor for disorders ranging from cardiovasculopathy to spina bifida. The N-terminal part of the...
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